Genetic variants associated with Hermansky-Pudlak syndrome-Reference-Cited by-同舟云学术

Genetic variants associated with Hermansky-Pudlak syndrome

Published:2019-09-05 Issue:4 Volume:31 Page:544-547
ISSN:0953-7104
Container-title:Platelets
language:en
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Author:

Merideth Melissa A.¹,Introne Wendy J.¹,Wang Jennifer A.²,O’Brien Kevin J.¹,Huizing Marjan²,Gochuico Bernadette R.²^ORCID

Affiliation:

1. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

2. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

Funder

Intramural Research Program, National Human Genome Research Institute, National Institutes of Health

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2019.1663810

Reference25 articles.

1. Huizing M, Malicdan MCV, Gochuico BR, Gahl WA. Hermansky-Pudlak Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A.le: University of Washington; 2000 Jul 24 [Updated 2017 Oct 26]. Seattle; 1993-2018.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1287/.

2. Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

3. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

4. Storage pool diseases illuminate platelet dense granule biogenesis

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