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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Detalles Bibliográficos
Autores principales: Boeckelmann, Doris, Wolter, Mira, Neubauer, Katharina, Sobotta, Felix, Lenz, Antonia, Glonnegger, Hannah, Käsmann-Kellner, Barbara, Mann, Jasmin, Ehl, Stephan, Zieger, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807545/
https://www.ncbi.nlm.nih.gov/pubmed/35126127
http://dx.doi.org/10.3389/fphar.2021.786937

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