Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: Implications for genotyping

Journal of Thrombosis and Haemostasis

Volumn 9, Issue 6, 2011, Pages 1183-1190

  Ogata, K ^a,b   Selvaraj, S R ^a   Miao, H Z ^a   Pipe, S W ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b TOKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

B domain; Factor VIII; Genotyping; Hemophilia A; Mutations

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8B; PLASMID VECTOR; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLEEDING; CHO CELL; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE ACTIVITY; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE; HEMOPHILIA A; HEMOSTASIS; HUMAN; HYDRODYNAMICS; IN VITRO STUDY; MISSENSE MUTATION; MOUSE; MUTAGENESIS; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN SECRETION; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ANIMALS; CERCOPITHECUS AETHIOPS; CHO CELLS; COS CELLS; CRICETINAE; CRICETULUS; FACTOR VIII; GENOTYPE; HEMOPHILIA A; HUMANS; MICE; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; TRANSFECTION;

EID: 79958066972     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2011.04268.x     Document Type: Article

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