Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)

Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. Interestingly, patients with HPS type 2 (HPS-2) or HPS type 1...

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Bibliographic Details
Main Authors: Doris Boeckelmann, Mira Wolter, Katharina Neubauer, Felix Sobotta, Antonia Lenz, Hannah Glonnegger, Barbara Käsmann-Kellner, Jasmin Mann, Stephan Ehl, Barbara Zieger
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Pharmacology
Subjects:
Hermansky-Pudlak syndrome (HPS)
HPS-3
HPS-5
HPS-7
BLOC-1
BLOC-2
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2021.786937/full

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