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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Detalles Bibliográficos
Autores principales: Wang, Yun, Wang, Zhi, Chen, Mengping, Fan, Ning, Yang, Jie, Liu, Lu, Wang, Ying, Liu, Xuyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412409/
https://www.ncbi.nlm.nih.gov/pubmed/25919014
http://dx.doi.org/10.1371/journal.pone.0125651

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