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A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family

PURPOSE: To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN). METHODS: It has been reported that FRMD7 mutations account for approximately 47% of X-linked nystagmus in Chinese patients. We collected 5 ml of blood sa...

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Detalhes bibliográficos
Main Authors: Du, Wei, Bu, Juan, Dong, Jiamei, Jia, Yanlei, Li, Jing, Liang, Chen, Si, Shancheng, Wang, Lejin
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3209434/
https://ncbi.nlm.nih.gov/pubmed/22065930
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