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Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency

27 Dec 2016

Abstract excerpt

BACKGROUND: We describe the genetic profiles of Korean patients with glucose-6-phosphate dehydrogenase (G6PD) deficiencies and the effects of G6PD mutations on protein stability and enzyme activity on the basis of in silico analysis. METHODS: In parallel with a genetic analysis, the pathogenicity of G6PD mutations detected in Korean patients was predicted in silico. The simulated effects of G6PD mutations were...

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PMID: 28028996
DOI: 10.3343/alm.2017.37.2.108

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