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