Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism-Reference-Cited by-同舟云学术

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism

Published:2016-11 Issue:3 Volume:119 Page:284-287
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

O'Brien Kevin J.,Lozier Jay,Cullinane Andrew R.,Osorio Brigitte,Nghiem Khanh,Speransky Vladislav,Zein Wadih M.,Mullikin James C.,Neff Anne T.,Simon Karen L.,Malicdan May Christine V.,Gahl William A.,Young Lisa R.,Gochuico Bernadette R.

Funder

Intramural Research Programs of the National Human Genome Research Institute

Clinical Center

National Institute of Biomedical Imaging and Bioengineering

National Eye Institute

National Institutes of Health

NCATS

National Heart, Lung, and Blood Institute

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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5. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome;Ammann;Blood,2016

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