Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity. HPS1 mutations cause HPS-1 disease, and ADTB3A mutations cause HPS-2 disease, which is known to involve abnormal intr...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Huizing, Marjan, Anikster, Yair, Fitzpatrick, Diana L., Jeong, Anna B., D’Souza, Maria, Rausche, Melanie, Toro, Jorge R., Kaiser-Kupfer, Muriel I., White, James G., Gahl, William A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The American Society of Human Genetics 2001
Aiheet:
Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274349/
https://ncbi.nlm.nih.gov/pubmed/11590544
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