ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of alpha-dystroglycan posttranslational processing abnormalities, which share a defect in lamin...

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Detalles Bibliográficos
Autores principales: Willer, Tobias, Lee, Hane, Lommel, Mark, Yoshida-Moriguchi, Takako, de Bernabe, Daniel Beltran Valero, Venzke, David, Cirak, Sebahattin, Schachter, Harry, Vajsar, Jiri, Voit, Thomas, Muntoni, Francesco, Loder, Andrea S., Dobyns, William B., Winder, Thomas L., Strahl, Sabine, Mathews, Katherine D., Nelson, Stanley F., Moore, Steven A., Campbell, Kevin P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371168/
https://www.ncbi.nlm.nih.gov/pubmed/22522420
http://dx.doi.org/10.1038/ng.2252

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