Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia

British Journal of Haematology

Volumn 120, Issue 1, 2003, Pages 142-144

  Akhavan, Sepideh ^a,c   Luciani, Matteo ^b   Lavoretano, Silvia ^a   Mannucci, Pier Mannuccio ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c NONE   (Italy)

Author keywords

Congenital bleeding disorder; Dysprothrombinaemia; Hypoprothrombinaemia; Prothrombin deficiency

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; GENOMIC DNA; HISTIDINE; PROTHROMBIN;

ARTICLE; BANGLADESH; BLOOD SAMPLING; CASE REPORT; DNA ISOLATION; DYSPROTHROMBINEMIA; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HYPOPROTHROMBINEMIA; LABORATORY TEST; MALE; PARENT; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN TIME; STENOSIS; STOP CODON; THROMBOPLASTIN TIME;

HETEROZYGOTE; HUMANS; HYPOPROTHROMBINEMIAS; INFANT; MALE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTHROMBIN;

EID: 0037219834     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.03986.x     Document Type: Article

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