Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.-论文-万方医学网

作者： Luigia,De Falco ^[1] ; Laura,Silvestri ; Caroline,Kannengiesser ; Erica,Morán ; Claire,Oudin ; Marco,Rausa ; Mariasole,Bruno ; Jessica,Aranda ; Bienvenida,Argiles ; Idil,Yenicesu ; Maria,Falcon-Rodriguez ; Ebru,Yilmaz-Keskin ; Ulker,Kocak ; Carole,Beaumont ; Clara,Camaschella ; Achille,Iolascon ; Bernard,Grandchamp ; Mayka,Sanchez

作者单位： CEINGE, Biotecnologie Avanzate, Naples, Italy. ^[1]

主题词青少年(Adolescent);成年人(Adult);贫血, 缺铁性(Anemia, Iron-Deficiency);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);基因频率(Gene Frequency);基因顺序(Gene Order);遗传关联研究(Genetic Association Studies);基因座(Genetic Loci);遗传变异(Genetic Variation);基因型(Genotype);人类(Humans);婴儿(Infant);男(雄)性(Male);膜蛋白质类(Membrane Proteins);突变(Mutation);表型(Phenotype);丝氨酸内肽酶类(Serine Endopeptidases);青年人(Young Adult)

DOI 10.1002/humu.22632

PMID 25156943

发布时间 2022-01-29

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Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

Human mutation

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Human mutation

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Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

Human mutation

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Human mutation

相关期刊

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