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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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2012
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3371168/
https://ncbi.nlm.nih.gov/pubmed/22522420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2252
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