| http://purl.uniprot.org/citations/20816175 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20816175 | http://www.w3.org/2000/01/rdf-schema#comment | "Alpha-dystroglycanopathies are a group of rare inherited neuromuscular disorders characterized by reduced glycosylation of alpha-dystroglycan (alpha-DG). Mutations in six genes (POMT1, POMT2, POMGNT1, FKTN, FKRP, and LARGE) have been identified in patients with alpha-dystroglycanopathies. Due to an extremely broad clinical spectrum and relatively poor phenotype-genotype correlation, diagnosis of alpha-dystroglycanopathies is difficult and requires searching for mutations gene by gene. At present, of the six proteins involved on alpha-dystroglycanopathies, the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis. This chapter describes the assay protocols to diagnose patients with alpha-dystroglycanopathy by measuring glycosyltransferase activity."xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0076-6879(10)79019-4"xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/author | "Endo T."xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/author | "Manya H."xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/author | "Seta N."xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/author | "Guicheney P."xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/name | "Methods Enzymol"xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/pages | "343-352"xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/title | "POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies."xsd:string |
| http://purl.uniprot.org/citations/20816175 | http://purl.uniprot.org/core/volume | "479"xsd:string |
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