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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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Publicat a:Sci Rep
Autors principals: Choi, Jae-Hwan, Shin, Jin-Hong, Seo, Je Hyun, Jung, Jae-Ho, Choi, Kwang-Dong
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Accés en línia: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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