Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families

OBJECTIVE: Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of α-dystroglycan (α-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is...

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Detalhes bibliográficos
Main Authors: Chang, Wendy, Winder, Thomas L., LeDuc, Charles A., Simpson, Lynn L., Millar, William S., Dungan, Jeffrey, Ginsberg, Norman, Plaga, Stacey, Moore, Steven A., Chung, Wendy K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2735827/
https://ncbi.nlm.nih.gov/pubmed/19266496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.2238
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