Article
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
Human mutation - 1 Aug 2000
Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R
Abstract excerpt
We investigated the molecular basis of glycogen storage disease type 1 non-A (GSD1 non-A) in 21patients. In addition to 8 novel mutations within the G6PT1 gene (c.250T>A, c.580G>A, c.627C>T, c.653-4delAG, c. 844C>A, c.1071A>C, c.1268G>A, c.1348G>A), we found a remarkably high prevalence of exon 8 mutations in German patients. The c.1211-2delCT mutation and the c.1184G>T mutation accounted for 32% and 29% of...
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