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[A heterozygous point mutation G13328A in antithrombin gene causes thrombosis].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Nov 2005

Zhou Rong-fu, Shi Guo-chao, Fu Qi-hua, Wang Wen-bin, Xie Shuang, Dai Jing, Ding Qiu-lan, Hu Yi-qun, Wang Xue-feng, Deng Wei-wu, Wang Hong-li

Abstract excerpt

OBJECTIVE: To identify the phenotype and the gene mutation in a kindred with antithrombin (AT) deficiency. METHODS: Immuno-nephelometry and chromogenic assay were used to detect the plasma level of AT antigen (AT: Ag) and activity (AT: A), respectively. All the seven exons and intron-exon boundaries of AT gene from the propositus were amplified by PCR and direct sequencing of the PCR pro-ducts was performed....

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PMID: 16620552

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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