Cargando…
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
BACKGROUND: We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome. METHODS: We used whole-exome sequencing to analyze two families affected with CAP...
| Autores principales: | , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937150/ https://www.ncbi.nlm.nih.gov/pubmed/24468074 http://dx.doi.org/10.1186/1750-1172-9-15 |