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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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| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2012
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| גישה מקוונת: | 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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