(Q34186874)

31 July 2017

title

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics (English)

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Hermansky-Pudlak syndrome

31 July 2017

main subject

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Paul D Anderson

1

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31 July 2017

Marjan Huizing

2

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31 July 2017

David A Claassen

3

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31 July 2017

James White

4

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31 July 2017

William A Gahl

5

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31 July 2017

publication date

27 March 2003

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31 July 2017

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31 July 2017

volume

113

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31 July 2017

issue

1

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31 July 2017

page(s)

10-17

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Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

31 July 2017

cites work

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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.

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12 December 2020

The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes

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12 December 2020

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

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12 December 2020

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

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12 December 2020

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

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12 December 2020

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

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12 December 2020

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

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12 December 2020

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome

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12 December 2020

AP-3: an adaptor-like protein complex with ubiquitous expression

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12 December 2020

Hermansky-Pudlak syndrome and related disorders of organelle formation

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12 December 2020

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

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12 December 2020

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

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12 December 2020

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

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12 December 2020

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

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12 December 2020

Mouse models of Hermansky Pudlak syndrome: a review

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12 December 2020

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

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12 December 2020

Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

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12 December 2020

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

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12 December 2020

Beta3A-adaptin, a subunit of the adaptor-like complex AP-3

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12 December 2020

10.1007/S00439-003-0933-5

Identifiers

DOI

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Dimensions Publication ID

1075259982

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