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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2006
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Article
On-line přístup: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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