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Genetic Mutations

Eight New G6PD Deficiency Mutations Found

Published in Blood Weekly, March 13th, 1995

Researchers reported several new mutations from patients with glucose-6-phosphate dehydrogenase (G6PD).

Weiming Xu, The Scripps Research Institute, La Jolla, California, and colleagues stated that mutations producing G6PD deficiency have been identified in samples from patients with hemolytic disease in the United States as well as in G6PD-deficient samples from Greece, the Canary Islands, the Czech and Slovak Republics, South China and in samples from the Coriell Cell Repository.

The researchers noted that G6PD deficiency probably is the most common enzymopathy in humans. The deficiency results in neonatal jaundice, drug-induced hemolytic anemia,...

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