Article
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
American journal of medical genetics. Part A - 30 Aug 2004
Ekstein Josef, Rubin Berish Y, Anderson Sylvia L, Weinstein David A, Bach Gideon, Abeliovich Dvorah, Webb Michael, Risch Neil
Abstract excerpt
Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme D-glucose-6-phosphatase (G6Pase). While numerous mutations have been found in cosmopolitan European populations, Ashkenazi Jewish (AJ) patients appear to primarily carry the R83C mutation, but possibly also the Q347X mutation found generally in Caucasians. To determine the frequency for both these...
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