A novel missense mutation in the antithrombin III gene (Ser349----Pro) causing recurrent venous thrombosis

Hum Genet. 1992 Mar;88(6):707-8. doi: 10.1007/BF02265306.

Authors

C B Grundy¹, S Holding, D S Millar, V V Kakkar, D N Cooper

Affiliation

¹ Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.

PMID: 1551681
DOI: 10.1007/BF02265306

No abstract available

MeSH terms

Adolescent
Adult
Antithrombin III / genetics*
Antithrombin III Deficiency
DNA Mutational Analysis
Female
Humans
Male
Mutation*
Pedigree
Polymerase Chain Reaction
Proline / genetics
Serine / genetics
Thrombophlebitis / genetics*

Substances

Serine
Antithrombin III
Proline