Title : DYT1 mutations amongst early onset primary dystonia patients in China.

Pub. Date : 2008 Mar

PMID : 18437909






3 Functional Relationships(s)
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1 OBJECTIVE: To investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China. Glycosaminoglycans torsin family 1 member A Homo sapiens
2 RESULTS: The GAG deletion mutation which results in Glu302del in exon 5 of the DYT1 gene was found in 5 patients. Glycosaminoglycans torsin family 1 member A Homo sapiens
3 CONCLUSIONS: The GAG deletion in the DYT1 gene is common amongst early onset primary torsion dystonia patients in China. Glycosaminoglycans torsin family 1 member A Homo sapiens