Hemochromatosis-related mutation detection. - Suppr | 超能文献

Hemochromatosis-related mutation detection.

作者信息

Merryweather-Clarke A T, Shearman J D, Robson K J, Pointon J J, Liu Y T, Bomford A, Dooley J, Walker A P, Worwood M

出版信息

Blood. 1998 Apr 1;91(7):2620-1.

Abstract

摘要

相似文献

1

Hemochromatosis-related mutation detection.

Blood. 1998 Apr 1;91(7):2620-1.

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Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations.用于同时检测C282Y和H63D血色素沉着症（HFE）基因突变的简单多重PCR。

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A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis.一种用于检测遗传性血色素沉着症中HLA-H基因突变的更廉价、更快速的聚合酶链反应-限制性片段长度多态性方法。

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LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts.基于相反的熔解温度变化，采用LightCycler PCR分析法同时检测HFE血色素沉着症基因中的H63D和S65C突变。

Clin Chem. 1999 Dec;45(12):2275-8.

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Correction for Stott et al.: simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations.

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HFE genotyping by amplification refractory mutation system-denaturing HPLC.

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Differential HFE allele expression in hemochromatosis heterozygotes.

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Rapid diagnosis of hemochromatosis gene Cys282Tyr mutation by SSCP analysis.

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引用本文的文献

1

Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia.哥伦比亚西北部 HLA 与 HFE H63D 和 C282Y 基因突变之间的祖先关联。

Genet Mol Biol. 2015 Mar;38(1):8-13. doi: 10.1590/S1415-475738120140080. Epub 2014 Mar 17.

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