A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies

Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features. The genes associated with HPS encode for different BLOC- (biogenesis of lysosome-related organelles complex) comple...

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Detalles Bibliográficos
Autores principales: Boeckelmann, Doris, Wolter, Mira, Käsmann-Kellner, Barbara, Koehler, Udo, Schieber-Nakamura, Lea, Zieger, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8533863/
https://www.ncbi.nlm.nih.gov/pubmed/34685610
http://dx.doi.org/10.3390/cells10102630

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