Three most common nonsynonymous UGT1A6*2 polymorphisms (Thr181Ala, Arg184Ser and Ser7Ala) and therapeutic response to deferiprone in β-thalassemia major patients.-论文-万方医学网

作者： Sneha,Dadheech ^[1] ; A Venkateswara,Rao ; Uzma,Shaheen ; Mohammed Dyia,Hussien ; Suman,Jain ; A,Jyothy ; Anjana,Munshi

作者单位： Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad-500016, India; Dr. NTR University of Health Sciences, Vijayawada, A.P., India. ^[1]

主题词青少年(Adolescent);丙氨酸(Alanine);氨基酸取代(Amino Acid Substitution);精氨酸(Arginine);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);基因频率(Gene Frequency);遗传关联研究(Genetic Association Studies);葡糖醛酸基转移酶(Glucuronosyltransferase);人类(Humans);铁螯合剂(Iron Chelating Agents);铁超负荷(Iron Overload);同工酶类(Isoenzymes);男(雄)性(Male);突变, 误义(Mutation, Missense);多态性, 单核苷酸(Polymorphism, Single Nucleotide);吡啶酮类(Pyridones);丝氨酸(Serine);苏氨酸(Threonine);治疗结果(Treatment Outcome);β地中海贫血(beta-Thalassemia)

DOI 10.1016/j.gene.2013.08.078

PMID 24036429

发布时间 2018-12-02

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Three most common nonsynonymous UGT1A6*2 polymorphisms (Thr181Ala, Arg184Ser and Ser7Ala) and therapeutic response to deferiprone in β-thalassemia major patients.

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Three most common nonsynonymous UGT1A6*2 polymorphisms (Thr181Ala, Arg184Ser and Ser7Ala) and therapeutic response to deferiprone in β-thalassemia major patients.

Gene

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Gene

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