Molecular bases of antithrombin deficiency in French families: Identification of seven novel mutations in the antithrombin gene

British Journal of Haematology

Volumn 110, Issue 3, 2000, Pages 731-734

  Picard, Véronique ^a   Bura, Alessandra ^a   Emmerich, Joseph ^a   Alhenc Gelas, Martine ^a   Biron, Christine ^b   Houbouyan Reveillard, Lucie L ^c   Molho, Pascale ^d   Labatide Alanore, Agnès ^a   Sié, Pierre ^e   Toulon, Pierre ^d   Verdy, Elisabeth ^f   Aiach, Martine ^a  

^a HÔPITAL BROUSSAIS   (France)

^b HÔPITAL SAINT ELOI   (France)

^c HÔPITAL AMBROISE PARÉ   (France)

^d Hôpital Cochin ^*  (France)

^e CHU PURPAN   (France)

^f HÔPITAL TENON   (France)

Author keywords

Antithrombin; Gene; Mutation; Serpin; Thrombosis

Indexed keywords

ANTITHROMBIN; DNA; THROMBIN;

ANTITHROMBIN DEFICIENCY; ARTICLE; DNA DETERMINATION; EXON; FRAMESHIFT MUTATION; FRANCE; GENE MUTATION; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

ANTITHROMBIN III DEFICIENCY; BINDING SITES; EXONS; FIBRIN; GENE DELETION; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; THROMBOSIS;

EID: 0033776297     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02245.x     Document Type: Article

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