Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS

Published 2017 View Full Article

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Title
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
Authors
Keywords
Biogenesis of Lysosome-related Organelles Complex-1, DTNBP1, Dysbindin, Oculocutaneous albinism, Platelet storage pool disorder
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 120, Issue 4, Pages 378-383
Publisher
Elsevier BV
Online
2017-02-28
DOI
10.1016/j.ymgme.2017.02.007

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