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Genetic analysis of mutations in seven Japanese families with type I antithrombin deficiency.

Seminars in thrombosis and hemostasis - 1 Jan 1998

Ozawa T, Sakuragawa N

Abstract excerpt

We have performed genetic analysis on seven Japanese families with type I antithrombin (AT) deficiency by the polymerase chain reaction (PCR)/direct DNA sequencing method. Five distinct mutations including two novel ones were identified in six of seven families. All subjects investigated were heterozygous for the mutations. In one family, however, no genetic abnormality was found within the analyzed DNA...

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PMID: 9701453
DOI: 10.1055/s-2007-995847

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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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