Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency

Haemophilia

Volumn 18, Issue 2, 2012, Pages 205-210

  Paraboschi, E M ^a   Kayiran, S M ^b   Ozbek N ^c   Gurakan B ^b   Peyvandi, F ^a   Guella, I ^a   Duga, S ^a   Asselta, R ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b AMERICAN HOSPITAL   (Turkey)

^c BASKENT UNIVERSITY   (Turkey)

Author keywords

A1 domain; Coagulation factor V; Factor V deficiency; Frameshift mutation; In vitro expression; Missense mutation

Indexed keywords

BLOOD CLOTTING FACTOR 5; COMPLEMENTARY DNA; FRESH FROZEN PLASMA; PROTHROMBIN; THROMBOPLASTIN;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; CONSANGUINEOUS MARRIAGE; EXON; GASTROINTESTINAL HEMORRHAGE; GENE DELETION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INFANT; INTRON; JAUNDICE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; PROMOTER REGION; PROTHROMBIN TIME; TURKEY (REPUBLIC);

FACTOR V; FACTOR V DEFICIENCY; FRAMESHIFT MUTATION; HUMANS; INFANT; MALE; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 84857108277     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02621.x     Document Type: Article

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