Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A

Haemophilia

Volumn 19, Issue 1, 2013, Pages 100-105

  Inaba, H ^a   Koyama, T ^b   Shinozawa, K ^a   Amano, K ^a   Fukutake, K ^a  

^a TOKYO MEDICAL UNIVERSITY   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Factor VIII; Haemophilia A; Inhibitor; Intron; Mutation

Indexed keywords

ADENINE; BLOOD CLOTTING FACTOR 8; GENOMIC DNA; GUANINE; IMMUNOGLOBULIN G4; MESSENGER RNA; RECOMBINANT BLOOD CLOTTING FACTOR 8;

AGED; ARTICLE; BLOOD CLOTTING TEST; CASE REPORT; DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; EXON; GENE MUTATION; GENETIC ANALYSIS; HEMOPHILIA A; HIGH THROUGHPUT SEQUENCING; HUMAN; INTRON; MALE; PRIORITY JOURNAL;

ADENINE; AGED; DNA MUTATIONAL ANALYSIS; FACTOR VIII; GENOTYPE; GUANINE; HEMOPHILIA A; HUMANS; INTRONS; MALE; NUCLEOTIDES; POINT MUTATION; RISK FACTORS;

EID: 84871011498     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2012.02906.x     Document Type: Article

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