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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534761/ https://www.ncbi.nlm.nih.gov/pubmed/26268155 http://dx.doi.org/10.1038/srep13003 |