Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.
作者:
主题词
成年人(Adult);贫血, 溶血性(Anemia, Hemolytic);碱基序列(Base Sequence);儿童, 学龄前(Child, Preschool);染色体(Chromosomes);慢性病(Chronic Disease);外显子(Exons);女(雌)性(Female);基因表达调控, 酶学(Gene Expression Regulation, Enzymologic);珠蛋白类(Globins);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);系谱(Pedigree);点突变(Point Mutation);聚合酶链反应(Polymerase Chain Reaction);妊娠(Pregnancy);丙酮酸激酶(Pyruvate Kinase);疾病严重程度指数(Severity of Illness Index);越南(Vietnam)
PMID
15642665
发布时间
2005-01-11
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Haematologica
25-30页
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