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Article

Two new nonsense mutations in type Ia antithrombin III deficiency at Leu 140 and Arg 197.

Thrombosis and haemostasis - 5 Oct 1992

Tomonari A, Iwahana H, Yoshimoto K, Shigekiyo T, Saito S, Itakura M

Abstract excerpt

Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing, the molecular basis of hereditary type Ia antithrombin III (AT III) deficiency was disclosed in two families. One mutation was a change from T to A in the codon of TTA for Leu 140 forming a stop codon of TAA, which was confirmed by mutated primer-mediated PCR-HindIII digestion. The application of this method...

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PMID: 1360174

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CGA

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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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