A novel nonsense mutation in the antithrombin III gene (Ser365 to stop) causing deep and mesenteric venous thromboses

Thrombosis and Haemostasis

Volumn 85, Issue 3, 2001, Pages 570-571

  Takenaga, M ^a   Horinouchi, K ^a   Shirieda, K ^a   Fukudome, T ^a   Fujimoto, T ^a  

^a Miyazaki Cardiovascular Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; ANTITHROMBIN III; DNA FRAGMENT; DNA POLYMERASE; PLASMINOGEN; PROTEIN C; PROTEIN S;

ADULT; ANTICOAGULANT THERAPY; ANTITHROMBIN III DEFICIENCY; ARTERIOGRAPHY; BLOOD CLOT LYSIS; CASE REPORT; DEEP VEIN THROMBOSIS; EXON; FAMILIAL INCIDENCE; GENE AMPLIFICATION; GENETIC ANALYSIS; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; JEJUNUM DISEASE; LETTER; LONG TERM CARE; MALE; MESENTERIC VEIN THROMBOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON; THROMBOPHLEBITIS;

EID: 0035080785     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1615633     Document Type: Letter

References (5)

1. Molecular genetics of human antithrombin deficiency
2. Therapeutic agents and their practical use in thrombotic disorders
3. Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia
4. Antithrombin mutation database: 2nd (1997) update
5. Molecular genetics of antithrombin deficiency