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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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Detalles Bibliográficos
Autores principales:	Yan, Naihong, Liao, Xuan, Cai, Su-ping, Lan, Changjun, Wang, Yun, Zhou, Xiaomin, Yin, Yan, Yu, Wenhan, Liu, Xuyang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3423421/ https://www.ncbi.nlm.nih.gov/pubmed/22916221 http://dx.doi.org/10.1371/journal.pone.0043177

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