Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico

Hermansky–Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction. HPS is very common in Puerto Rico (PR), particularly in the northwest part of the island, with a frequ...

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Detaylı Bibliyografya
Asıl Yazarlar: Santiago Borrero, Pedro J., Rodríguez-Pérez, Yolanda, Renta, Jessicca Y., Izquierdo, Natalio J., del Fierro, Laura, Muñoz, Daniel, Molina, Norma López, Ramírez, Sonia, Pagán-Mercado, Glorivee, Ortíz, Idith, Rivera-Caragol, Enid, Spritz, Richard A., Cadilla, Carmen L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2006
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3560388/
https://ncbi.nlm.nih.gov/pubmed/16417222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.jid.5700034
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