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Article

Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.

International journal of hematology - 1 Jul 2003

Nagaizumi Keiko, Inaba Hiroshi, Amano Kagehiro, Suzuki Midori, Arai Morio, Fukutake Katsuyuki

Abstract excerpt

We analyzed the antithrombin (AT) gene in 9 unrelated Japanese patients with thrombotic disease. All 7 exons, the splice junctions, and the 5'-flanking region of the AT gene were amplified by polymerase chain reaction and sequenced directly. Nine different point mutations, all in the heterozygous state, were identified. Five novel (M-32T, M89K, L146H, Q159X, and L409P) and 2 previously reported (R132X and R359X)...

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Identifiers

PMID: 12894857
DOI: 10.1007/BF02983246

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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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