Article
G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype.
Human genetics - 1 Feb 1994
Cappellini M D, Sampietro M, Toniolo D, Carandina G, Martinez di Montemuros F, Tavazzi D, Fiorelli G
Abstract excerpt
The cloning and sequencing of the normal glucose-6-phosphate dehydrogenase (G6PD) gene has led to the study of the molecular defects that determine enzymatic variants. In this paper, we describe the mutations responsible for the Ferrara I variant in an Italian man with a family history of favism, from the Po delta. Nucleotide sequencing of this variant showed a G-->A mutation at nucleotide 202 in exon IV causing...
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