A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

BACKGROUND: The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All...

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Detalhes bibliográficos
Main Authors: Yan, Naihong, Liao, Xuan, Cai, Su-ping, Lan, Changjun, Wang, Yun, Zhou, Xiaomin, Yin, Yan, Yu, Wenhan, Liu, Xuyang
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3423421/
https://ncbi.nlm.nih.gov/pubmed/22916221
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0043177
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