Article
Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica.
Human genetics - 1 Aug 1991
Beutler E, Kuhl W, Sáenz G F, Rodríguez W
Abstract excerpt
Glucose-6-phosphate dehydrogenase (G6PD) deficiency has previously been reported among both the black and white populations of Costa Rica. All 28 G6PD A- samples were found to be of the common G6PD A-376G/202A type. A previously described mutation associated with nonspherocytic hemolytic anemia, G6PD Puerto Limón, was found to be due to a G----A transition at nucleotide (nt) 1192, causing a glu----lys...
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