(Q35249888)

7 August 2017

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

1 reference

7 August 2017

1 reference

Hazelwood S

1

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7 August 2017

Shotelersuk V

2

1 reference

7 August 2017

Wildenberg SC

3

1 reference

7 August 2017

Chen D

4

1 reference

7 August 2017

Iwata F

5

1 reference

7 August 2017

Kaiser-Kupfer MI

6

1 reference

7 August 2017

White JG

7

1 reference

7 August 2017

King RA

8

1 reference

7 August 2017

Gahl WA

9

1 reference

7 August 2017

language of work or name

English

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publication date

1 November 1997

1 reference

American Journal of Human Genetics

7 August 2017

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7 August 2017

61

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7 August 2017

5

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7 August 2017

1088-1094

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

Hermansky-Pudlak syndrome with granulomatous colitis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

[Hermansky-Pudlak syndrome in a Valais village]

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716022

The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency

26 September 2018

1 reference

12 December 2020

Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction

1 reference

12 December 2020

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

1 reference

12 December 2020

Hermansky-Pudlak syndrome. Ophthalmic findings

1 reference

12 December 2020

Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1086/301611

1 reference

7 August 2017

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7 August 2017

1 reference