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Article

Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

British journal of haematology - 1 Jul 1991

Gandrille S, Vidaud D, Emmerich J, Clauser E, Sié P, Fiessinger J N, Alhenc-Gelas M, Priollet P, Aiach M

Abstract excerpt

Antithrombin III (AT III) is an inhibitor of serine protease (serpin) comprising 432 amino acids. Quantitative AT III deficiencies are associated with a high risk of thrombotic disease. Although this risk is smaller in patients with qualitative AT III deficiencies, the molecular defects characterizing the latter have been the subject of many studies. However, in quantitative AT III deficiencies, only three...

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PMID: 1873224
DOI: 10.1111/j.1365-2141.1991.tb04457.x

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Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.PMID 1873224Read ↗

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