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    Hum Genet. 1978 Jul 12;43(1):81-4.

    A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia.

    Lisker R, Briceno RP, Agrilar L, Yoshida A.

    Abstract

    Erythrocyte glucose-6-phosphate deficiency is an X-chromosomal-linked hereditary trait often associated with hemolytic anemia. This report defines a new variant designated as Gd(-) Chiapas, which was found in a subject with occasional hemolytic jaundice. The red cell enzyme activity of the subject is about 15% of normal. The variant enzyme is thermolabile in vitro and has faster-than-normal anodal electrophoretic mobility and stronger-than-normal substrate affinity. The patient's hemolytic problem might be correlated with instability of the variant enzyme under physiologic stress.

    PMID:
    669721
    [PubMed - indexed for MEDLINE]

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