Glucose-6-phosphate dehydrogenase Toulouse. A new variant with marked instability and severe deficiency discovered in a family of Mediterranean ancestry.
第一作者:
H,Vergnes
作者:
主题词
儿童(Child);电泳, 淀粉凝胶(Electrophoresis, Starch Gel);蚕豆病(Favism);法国(France);遗传变异(Genetic Variation);葡糖磷酸脱氢酶(Glucosephosphate Dehydrogenase);葡糖磷酸脱氢酶缺乏(Glucosephosphate Dehydrogenase Deficiency);谷胱甘肽(Glutathione);人类(Humans);氢离子浓度(Hydrogen-Ion Concentration);意大利(Italy);男(雄)性(Male);突变(Mutation);NADP(NADP);系谱(Pedigree);温度(Temperature);地中海贫血(Thalassemia)
DOI
10.1159/000208300
PMID
4152602
发布时间
2018-02-16
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Acta haematologica
240-9页
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