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Analysis of human sarcospan as a candidate gene for CFEOM1
BACKGROUND: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrophin associated protein complex in skeletal and extraocular muscle and maps to h...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2001
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC29083/ https://www.ncbi.nlm.nih.gov/pubmed/11180757 http://dx.doi.org/10.1186/1471-2156-2-3 |