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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...

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Pubblicato in:BMC Genet
Autori principali: O'Brien, Kristine F, Engle, Elizabeth C, Kunkel, Louis M
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2001
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC29083/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11180757/
https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2156-2-3
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