Article
Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene.
Human mutation - 1 Jan 1996
Vulliamy T, Rovira A, Yusoff N, Colomer D, Luzzatto L, Vives-Corrons J L
Abstract excerpt
The vast majority of both polymorphic and sporadic G6PD variants are due to single missense mutations. In the four polymorphic variants that have two point mutations, one of the mutations is always 376 A-->G (126 Asn-->Asp), which on its own gives rise to the nondeficient polymorphic variant, G6PD A. In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic...
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