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...

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Detalles Bibliográficos
Autores principales: O'Brien, Kristine F, Engle, Elizabeth C, Kunkel, Louis M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2001
Materias:
Research Article
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

Internet

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

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