Article
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
European journal of human genetics : EJHG - 1 Sept 1999
Veiga-da-Cunha M, Gerin I, Chen Y T, Lee P J, Leonard J V, Maire I, Wendel U, Vikkula M, Van Schaftingen E
Abstract excerpt
The purpose of this work was to test the hypothesis that mutations in the putative glucose 6-phosphate translocase gene would account for most of the cases of GSD I that are not explained by mutations in the phosphohydrolase gene, ie that are not type Ia. Twenty-three additional families diagnosed as having GSD I non-a (GSDIb, Ic or Id) have now been analysed. The 9exons of the gene were amplified by PCR and...
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