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Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family

BACKGROUND: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. METHO...

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Detalles Bibliográficos
Autores principales: Pour-Jafari, H, Zamanian, A, Pour-Jafari, B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3468964/
https://www.ncbi.nlm.nih.gov/pubmed/23112997