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Article

Familial overexpression of beta antithrombin caused by an Asn135Thr substitution.

Blood - 15 Jun 1999

Bayston T A, Tripodi A, Mannucci P M, Thompson E, Ireland H, Fitches A C, Hananeia L, Olds R J, Lane D A

Abstract excerpt

We have investigated the basis of antithrombin deficiency in an asymptomatic individual (and family) with borderline levels (approximately 70% antigen and activity) of antithrombin. Direct sequencing of amplified DNA showed a mutation in codon 135, AAC to ACC, predicting a heterozygous Asn135Thr substitution. This substitution alters the predicted consensus sequence for glycosylation, Asn-X-Ser, adjacent to the...

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PMID: 10361121

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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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