Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

@article{Vulliamy1988DiversePM,
  title={Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.},
  author={Tom J. Vulliamy and Michele D'Urso and G. Battistuzzi and Marcus Estrada and Nicholas Simon Foulkes and Giuseppe Martini and Viola Calabr{\`o} and Vincenzo Poggi and Rosanna Giordano and Margaret Town},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1988},
  volume={85 14},
  pages={5171-5}
}
Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) deficiency is a common genetic abnormality affecting an estimated 400 million people worldwide. Clinical and biochemical analyses have identified many variants exhibiting a range of phenotypes, which have been well characterized from the hematological point of view. However, until now, their precise molecular basis has remained unknown. We have cloned and sequenced seven mutant G6PD alleles. In the nondeficient polymorphic African variant… CONTINUE READING

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