(Q34485728)

2 August 2017

1 reference

title

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function (English)

1 reference

Hermansky-Pudlak syndrome

2 August 2017

main subject

1 reference

Maria L Wei

1

1 reference

2 August 2017

publication date

1 February 2006

1 reference

Pigment Cell & Melanoma Research

2 August 2017

published in

1 reference

2 August 2017

volume

19

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2 August 2017

issue

1

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2 August 2017

page(s)

19-42

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Seven novel mammalian SNARE proteins localize to distinct membrane compartments

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

21 January 2018

1 reference

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Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.

21 January 2018

1 reference

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Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Distinct granule populations in human neutrophils and lysosomal organelles identified by immuno-electron microscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Myospryn is a novel binding partner for dysbindin in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Function and genetics of dystrophin and dystrophin-related proteins in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Molecular bases for the recognition of tyrosine-based sorting signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Signals for sorting of transmembrane proteins to endosomes and lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Coiled coils: a highly versatile protein folding motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Identification and characterization of Snapin as a ubiquitously expressed SNARE-binding protein that interacts with SNAP23 in non-neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The changing face of clinical trials.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Introduction: lysosome-related organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The melanocytic protein Melan-A/MART-1 has a subcellular localization distinct from typical melanosomal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The building BLOC(k)s of lysosomes and related organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Lysosome-related organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

An established light ear mutant (C57BL/6J-Pdeb(rd1) le) mouse cell line exhibits a block to secretion of lysosomal enzymes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

A function for the AP3 coat complex in synaptic vesicle formation from endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Genomic structure of the mouse Ap3b1 gene in normal and pearl mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Deep-etch visualization of proteins involved in clathrin assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Hereditary neutropenia: dogs explain human neutrophil elastase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Differential use of two AP-3-mediated pathways by lysosomal membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Snapin: a SNARE-associated protein implicated in synaptic transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

A model for melanosome biogenesis based on the purification and analysis of early melanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Ubiquitylation of a melanosomal protein by HECT-E3 ligases serves as sorting signal for lysosomal degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The melanosome: membrane dynamics in black and white

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

A fusion pore phenotype in mast cells of the ruby-eye mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The receptor for activated C-kinase-I (RACK-I) anchors activated PKC-beta on melanosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Assembly and function of AP-3 complexes in cells expressing mutant subunits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Localization of the AP-3 adaptor complex defines a novel endosomal exit site for lysosomal membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Syntaxin 13 mediates cycling of plasma membrane proteins via tubulovesicular recycling endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The dark side of lysosome-related organelles: specialization of the endocytic pathway for melanosome biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

AP-1A and AP-3A lysosomal sorting functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

A novel RING finger protein complex essential for a late step in protein transport to the yeast vacuole

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Class C Vps protein complex regulates vacuolar SNARE pairing and is required for vesicle docking/fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

A Ypt/Rab effector complex containing the Sec1 homolog Vps33p is required for homotypic vacuole fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Characterization of the adaptor-related protein complex, AP-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

HPS gene mutations in Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Glycosphingolipids are required for sorting melanosomal proteins in the Golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Regulated secretion from hemopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Protein kinase C-β-mediated complex formation between tyrosinase and TRP-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2005.00289.X

10.1111/J.1600-0749.2005.00289.X

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference