Antithrombin deficiency in Brazilian patients with venous thrombosis - Molecular characterization of a single splice site mutation, an insertion and a de novo point mutation

Thrombosis Research

Volumn 104, Issue 6, 2001, Pages 397-403

  Arnaldi, Liliane A T ^a   Pretti, Fernando A ^b   Zampieri, Jose P ^c   Ramos, Clarisa F ^a   Arruda, Valder R ^d   Annichino Bizzacchi, Joyce M ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b FEDERAL UNIVERSITY OF ESPÍRITO SANTO   (Brazil)

^c HOSPITAL HELIÓPOLIS   (Brazil)

^d HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Antithrombin; Brazilian; Mutation; Prevalence; Venous thrombosis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ARGININE; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; DNA BASE; FIBRINOGEN;

ADULT; ANTITHROMBIN DEFICIENCY; ARTICLE; BRAZIL; CLINICAL FEATURE; CONTRACEPTION; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; EXON; FAMILY HISTORY; FEMALE; GENE INSERTION; GENETIC CODE; GENETIC RISK; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; VEIN THROMBOSIS;

ADULT; AGED; ANTITHROMBIN III; ANTITHROMBIN III DEFICIENCY; BRAZIL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POINT MUTATION; PREVALENCE; RISK FACTORS; RNA SPLICE SITES; VENOUS THROMBOSIS;

EID: 0035894643     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0049-3848(01)00390-5     Document Type: Article

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