The identification and classification of 41 novel mutations in the factor VIII gene (F8C)

Human Mutation

Volumn 19, Issue 3, 2002, Pages 274-278

  Cutler, J A ^a   Mitchell, M J ^a   Smith, M P ^a   Savidge, G F ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Factor VIII; FSC; Genotype phenotype; Hemophilia A

Indexed keywords

BLOOD CLOTTING FACTOR 8;

AMINO ACID SUBSTITUTION; ARTICLE; DISEASE SEVERITY; GENE LOCATION; GENE MUTATION; GENETIC CONSERVATION; HEMOPHILIA A; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE;

ANIMALS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DOGS; FACTOR VIII; FEMALE; GENOTYPE; HEMOPHILIA A; HUMANS; MICE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 0036186809     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10056     Document Type: Article

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