Hermansky-Pudlak Syndrome in Two African-American Brothers

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, granulomatous colitis and/or a fatal pulmonary fibrosis. There are eight different subtypes of HPS, each due to mutations in one of eight different...

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Hlavní autoři: Merideth, Melissa A., Vincent, Lisa M., Sparks, Susan E., Hess, Richard A., Manoli, Irini, O’Brien, Kevin J., Tsilou, Ekaterina, White, James G., Huizing, Marjan, Gahl, William A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2788939/
https://ncbi.nlm.nih.gov/pubmed/19334085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32757
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