A novel two base pair deletion in the factor V gene associated with severe factor V deficiency

British Journal of Haematology

Volumn 111, Issue 4, 2000, Pages 1240-1246

  Montefusco, Maria Claudia ^a   Duga, Stefano ^a   Asselta, Rosanna ^a   Santagostino, Elena ^a   Mancuso, Giacomo ^b   Malcovati, Massimo ^a   Mannucci, Pier Mannuccio ^a   Tenchini, Maria Luisa ^a,c  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF PALERMO   (Italy)

^c Dipto Biol Genet le Sci Mediche   (Italy)

Author keywords

Factor V deficiency; Inherited coagulation disorders; mRNA degradation; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ARTHROPATHY; ARTICLE; BASE PAIRING; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; EXON; FRAMESHIFT MUTATION; GASTROINTESTINAL HEMORRHAGE; GENE DELETION; GENE MUTATION; HEMARTHROSIS; HEMATURIA; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

ADOLESCENT; BASE PAIRING; BLOOD COAGULATION TESTS; FACTOR V; FACTOR V DEFICIENCY; GENE DELETION; HOMOZYGOTE; HUMANS; MALE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 0034488537     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02456.x     Document Type: Article

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