Variants of glucose‐6‐phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene

@article{Vulliamy1993VariantsOG,
  title={Variants of glucose‐6‐phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene},
  author={Tom Vulliamy and Ernest Beutler and Lucio Luzzatto},
  journal={Human Mutation},
  year={1993},
  volume={2}
}
Glucose‐6‐phosphate dehydrogenase (G6PD) is remarkable for its genetic diversity in humans. Many variants of G6PD have been described with wide ranging levels of enzyme activity and associated clinical symptoms. Fifty‐eight different mutations have now been identified and these account for 97 named G6PD variants. The mutations are almost exclusively missense mutations, causing single amino acid substitutions. They are spread throughout the coding region of the gene, although there appears to be… 
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TLDR
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TLDR
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TLDR
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TLDR
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