Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency.
Clinical biochemistry（2022）
Abstract
Our data suggest that G6PD "Tainan" and "Toluca" are potential Class II natural variants, which agrees with the absence of chronic nonspherocytic hemolytic anemia (CNSHA) in our patients. It remains to be determined whether these variants represent high-risk genetic factors for developing CNSHA, AHA, and/or NHB.
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Key words
Enzyme activity,Enzyme kinetics,G6PD deficiency,Mexican population,Newborn screening,Protein modeling,Protein stability,Recombinant proteins
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