A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)-Reference-Cited by-同舟云学术

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Published:2006-01 Issue:1 Volume:78 Page:160-166
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Morgan Neil V.,Pasha Shanaz,Johnson Colin A.,Ainsworth John R.,Eady Robin A.J.,Dawood Ban,McKeown Carole,Trembath Richard C.,Wilde Jonathan,Watson Steve P.,Maher Eamonn R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference20 articles.

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3. Adhesion of human and mouse platelets to collagen under shear: a unifying model;Auger;FASEB J,2005

4. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: a new syndrome;Davies;Quart J Med,1976

5. The building BLOC(k)s of lysosomes and related organelles;Dell’Angelica;Curr Opin Cell Biol,2004

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