A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8-Reference-Cited by-同舟云学术

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A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

Published:2012-08-02 Issue:5 Volume:25 Page:584-591
ISSN:1755-1471
Container-title:Pigment Cell & Melanoma Research
language:en
Short-container-title:

Author:

Cullinane Andrew R.,Curry James A.,Golas Gretchen,Pan James,Carmona-Rivera Carmelo,Hess Richard A.,White James G.,Huizing Marjan,Gahl William A.

Publisher

Wiley

Subject

Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1755-148X.2012.01029.x/fullpdf

Reference20 articles.

1. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico;Anikster;Nat. Genet.,2001

2. Adaptins: the final recount;Boehm;Mol. Biol. Cell,2001

3. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9;Cullinane;Am. J. Hum. Genet.,2011

4. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor;Dell’angelica;Mol. Cell,1999

5. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules;Falcon-Perez;J. Biol. Chem.,2002

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1. A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9);BMC Genomics;2024-08-27

2. The retinal pigmentation pathway in human albinism: Not so black and white;Progress in Retinal and Eye Research;2022-11

3. Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families;Genes;2022-03-12

4. A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies;Cells;2021-10-01

5. Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome;Human Pathology: Case Reports;2021-09

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