ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. [electronic resource]
Producer: 20120702Description: 575-80 p. digitalISSN:- 1546-1718
- Cells, Cultured
- Dystroglycans -- metabolism
- Fibroblasts -- cytology
- Genetic Complementation Test
- Glycosylation
- Humans
- Infant
- Laminin -- metabolism
- Mannose -- metabolism
- Mannosyltransferases -- genetics
- Mutation -- genetics
- Nucleotidyltransferases -- genetics
- Polysaccharides -- metabolism
- Skin -- cytology
- Walker-Warburg Syndrome -- genetics
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Publication Type: Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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