Three dominant-negative mutations in factor XI-deficient patients

Haemophilia

Volumn 17, Issue 5, 2011, Pages

  Dai, L ^a   Rangarajan, S ^a   Mitchell, M ^a  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Dominant negative mutation; FXI deficiency; FXI mutation

Indexed keywords

BLOOD CLOTTING FACTOR 11; LUCIFERASE;

ADULT; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; IN VITRO STUDY; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; WESTERN BLOTTING;

ADULT; AMINO ACIDS; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR XI; FACTOR XI DEFICIENCY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 80051997196     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02519.x     Document Type: Article

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