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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family

PURPOSE: To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation Chinese family. METHODS: Forty-nine members of an XLICN family were recruited and examined after obtaining informed consent. Affected male individuals were genotyped with mic...

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Detalles Bibliográficos
Autores principales: He, Xiang, Gu, Feng, Wang, Yujing, Yan, Jinting, Zhang, Meng, Huang, Shangzhi, Ma, Xu
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2267738/
https://www.ncbi.nlm.nih.gov/pubmed/18246032