Type II antithrombin deficiency caused by a large in-frame insertion: Structural, functional and pathological relevance

Journal of Thrombosis and Haemostasis

Volumn 10, Issue 9, 2012, Pages 1859-1866

  Martinez Martinez I ^a   Johnson, D J D ^b   Yamasaki, M ^b   Navarro Fernandez J ^a   Ordonez A ^a   Vicente, V ^a   Huntington, J A ^b   Corral, J ^a  

^a UNIVERSITY OF MURCIA   (Spain)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Antithrombin; Crystal structure; Hyperstable conformation; Mutation; Serpin; Thrombosis

Indexed keywords

ANTITHROMBIN; ANTITHROMBIN II; HEPARIN; PROTEIN; SERPIN SUPERFAMILY; THROMBIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ANALYTIC METHOD; ANTITHROMBIN DEFICIENCY; ANTITHROMBIN II DEFICIENCY; ARTICLE; BETA SHEET; BETA SHEET A; CALORIMETRY; CASE REPORT; CRYSTAL STRUCTURE; DISULFIDE BOND; FAMILY HISTORY; GENE; GENE INSERTION; GENE STRUCTURE; GLYCOSYLATION; HETEROZYGOTE; HUMAN; IN FRAME GENE INSERTION; LUNG EMBOLISM; MALE; MOLECULAR WEIGHT; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CLEAVAGE; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN PURIFICATION; PROTEIN STABILITY; PROTEIN STRUCTURE; REACTIVE CENTER LOOP; RELATIVE; SERPINC1 GENE;

AMINO ACID SEQUENCE; ANTITHROMBINS; BLOOD COAGULATION DISORDERS, INHERITED; CALORIMETRY, DIFFERENTIAL SCANNING; CELL LINE; CRYSTALLOGRAPHY, X-RAY; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; THROMBIN;

EID: 84865727175     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2012.04839.x     Document Type: Article

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