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Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus

PURPOSE: Infantile nystagmus (IN) is an inherited disorder characterized by bilateral ocular oscillatory movements. Recently, mutations in FRMD7 were found to be responsible for X-linked idiopathic infantile nystagmus . We investigated the role of the FRMD7 gene mutations in seven Chinese families w...

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主要な著者: Li, Ningdong, Wang, Liming, Cui, Lihong, Zhang, Li, Dai, Suzhen, Li, Hongyan, Chen, Xia, Zhu, Lina, Hejtmancik, James F, Zhao, Kanxing
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2008
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2324116/
https://ncbi.nlm.nih.gov/pubmed/18431453
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