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  1. No Access

    Article

    Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

    Glycogen storage disease type 1a (GSD 1a), an autosomal recessive disease, is caused by the inactivity of glucose-6-phosphatase, the gene of which has been recently cloned. We report on the missense mutation C...

    R. Parvari, S. Moses, E. Hershkovitz, R. Carmi… in Journal of Inherited Metabolic Disease (1995)

  2. No Access

    Article

    RFLPs for linkage analysis in families with glycogen storage disease type III

    A. Mishori-Dery, N. Bashan, S. Moses… in Journal of Inherited Metabolic Disease (1995)