Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles-melanosomes, platelet-dense granules, and lysosomes. As reported elsewhere, we mapped the human HPS...

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Detalhes bibliográficos
Main Authors: Oh, J, Ho, L, Ala-Mello, S, Amato, D, Armstrong, L, Bellucci, S, Carakushansky, G, Ellis, J P, Fong, C T, Green, J S, Heon, E, Legius, E, Levin, A V, Nieuwenhuis, H K, Pinckers, A, Tamura, N, Whiteford, M L, Yamasaki, H, Spritz, R A
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376951/
https://ncbi.nlm.nih.gov/pubmed/9497254
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