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A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BACKGROUND: Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in th...
Autores principales: | Chen, Junjue, Wei, Yan, Tian, Linlu, Kang, Xiaoli |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323710/ https://www.ncbi.nlm.nih.gov/pubmed/30616528 http://dx.doi.org/10.1186/s12881-018-0720-8 |
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