Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
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.
Format: Artigo
Sprog:Inglês
Udgivet: 2009
Fag:
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!