Clinical, molecular and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent

Hermansky-Pudlak syndrome is an autosomal recessive condition characterized by a bleeding diathesis and hypopigmentation of the skin, hair and eyes. Some HPS patients develop other complications such as granulomatous colitis and/or a fatal pulmonary fibrosis. Eight genes have been associated with th...

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Autors principals: Carmona-Rivera, Carmelo, Golas, Gretchen, Hess, Richard, Cardillo, Nicholas D., Martin, Elijah H., O’Brien, Kevin, Tsilou, Ekaterini, Gochuico, Bernadette R, White, James G., Huizing, Marjan, Gahl, William A.
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3213276/
https://ncbi.nlm.nih.gov/pubmed/21833017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2011.228
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