Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of <i>HFE</i>-Related Hereditary Hemochromatosis.

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作者： Kok-Siong,Poon ^[1] ; Cai-De,Lee ^[2] ; Nicholas Tzun-Kit,Kok ^[2] ; Karen Mei-Ling,Tan ^[1]

作者单位： Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital, Singapore, Singapore. ^[1] School of Life Sciences and Chemical Technology, Ngee Ann Polytechnic, Singapore, Singapore. ^[2]

关键词 C282Y EUROArray H63D HFE hereditary hemochromatosis

主题词女(雌)性(Female);基因型(Genotype);血色素沉着症(Hemochromatosis);组织相容性抗原Ⅰ类(Histocompatibility Antigens Class I);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);突变(Mutation);聚合酶链反应(Polymerase Chain Reaction);试剂盒, 诊断(Reagent Kits, Diagnostic);结果可重复性(Reproducibility of Results);回顾性研究(Retrospective Studies);序列分析, DNA(Sequence Analysis, DNA)

DOI 10.1089/gtmb.2020.0021

PMID 32762549

发布时间 2021-06-25

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Genetic testing and molecular biomarkers

2020年24卷9期

608-611页

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Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of <i>HFE</i>-Related Hereditary Hemochromatosis.

Genetic testing and molecular biomarkers

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Genetic testing and molecular biomarkers

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Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of <i>HFE</i>-Related Hereditary Hemochromatosis.

Genetic testing and molecular biomarkers

相似文献

Genetic testing and molecular biomarkers

相关期刊

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