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Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. OBJECTIVE: The purpose of this study was to evaluate the molecular ba...

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Publicado en:PLoS One
Autores principales: Wang, Yun, Wang, Zhi, Chen, Mengping, Fan, Ning, Yang, Jie, Liu, Lu, Wang, Ying, Liu, Xuyang
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4412409/
https://ncbi.nlm.nih.gov/pubmed/25919014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0125651
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