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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Shranjeno v:
Bibliografske podrobnosti
izdano v:PLoS One
Main Authors: Wang, Yun, Wang, Zhi, Chen, Mengping, Fan, Ning, Yang, Jie, Liu, Lu, Wang, Ying, Liu, Xuyang
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2015
Teme:
Research Article
Online dostop: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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