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A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus

Idiopathic infantile nystagmus (IIN) is the involuntary oscillation of the eyes with onset in the first few months of life. The most common form of inheritance is X-linked, and mutations in FRMD7 gene are a major cause. To identify the FRMD7 gene mutations associated with X-linked IIN, we performed...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Choi, Jae-Hwan, Shin, Jin-Hong, Seo, Je Hyun, Jung, Jae-Ho, Choi, Kwang-Dong
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4534761/
https://ncbi.nlm.nih.gov/pubmed/26268155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep13003
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