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[Antithrombin deficiency due to heterozygous antithrombin gene mutation and a pedigree study].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Sept 2007

Ye Xu, Feng Ying, Jin Pei-Pei, Zhou Xu-Hong, Ding Qiu-Lan, Wang Xue-Feng

Abstract excerpt

OBJECTIVE: To identify the antithrombin (AT) phenotype and gene mutation of a kindred with hereditary antithrombin deficiency. METHODS: Plasma AT activity and AT antigen level of the propositus and his kindred members were determined with chromogenic substrate method and immunoassay, respectively. All the seven exons and intron-exon boundaries of antithrombin gene were analyzed by PCR and direct sequencing of...

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PMID: 18246812

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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