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

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

A novel TCC arrow right CCC transition in the antithrombin III (ATIII) gene resulting in a Ser349 arrow right Pro substitution was detected in three members of a family with recurrent venous thrombosis and ATIII activity/antigen levels consistent with type II ATIII deficiency. (DBO)

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Bibliographische Detailangaben
Veröffentlicht in:Human genetics 1992-03, Vol.88 (6), p.707-708
Hauptverfasser: GRUNDY, C. B, HOLDING, S, MILLAR, D. S, KAKKAR, V. V, COOPER, D. N
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Antithrombin III - genetics
Antithrombin III Deficiency
Biological and medical sciences
DNA Mutational Analysis
Female
Hematologic and hematopoietic diseases
Humans
Male
Medical sciences
Mutation
Pedigree
Platelet diseases and coagulopathies
Polymerase Chain Reaction
Proline - genetics
Serine - genetics
Thrombophlebitis - genetics
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Beschreibung
Zusammenfassung:A novel TCC arrow right CCC transition in the antithrombin III (ATIII) gene resulting in a Ser349 arrow right Pro substitution was detected in three members of a family with recurrent venous thrombosis and ATIII activity/antigen levels consistent with type II ATIII deficiency. (DBO)
ISSN:0340-6717
1432-1203
DOI:10.1007/BF02265306