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[Two new mutations of AT gene in type I inherited antithrombin deficiency.].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2010

Chen Qiong, Lu Ye-Ling, Xu Guan-Qun, Ding Qiu-Lan, Wang Xue-Feng, Xi Xiao-Dong, Wang Hong-Li

Abstract excerpt

OBJECTIVE: To identify the clinical phenotype and gene mutation in two kindreds with type I inherited antithrombin (AT) deficiency. METHODS: The coagulation and anticoagulation testing and thrombophilia screening were used for phenotypic diagnosis and immunonephelometry and chromogenic assay for plasma level of AT antigen (AT:Ag) and AT activity (AT:A), respectively. All of the seven exons and intron-exon...

Topics

Antithrombin III Deficiency
Heterozygote
Humans
Mutation
Pedigree
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 20510100

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