Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII

Journal of Thrombosis and Haemostasis

Volumn 4, Issue 9, 2006, Pages 1969-1974

  Cai, X H ^a,b   Wang, X F ^a   Dai, J ^a   Fang, Y ^a   Ding, Q L ^a   Xie, F ^a   Wang, Hong Li ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^b Shanghai Blood Center   (China)

Author keywords

De novo mutation; Factor VIII; Female; Hemophilia A

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8C; GENOMIC DNA; LEUCINE; MESSENGER RNA; PROLINE; RISTOCETIN; VON WILLEBRAND FACTOR;

ADULT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; DNA EXTRACTION; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSCRIPTION; HEMOPHILIA A; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PERIPHERAL LYMPHOCYTE; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SCHOOL CHILD; STOP CODON; SYMPTOM; VON WILLEBRAND DISEASE;

CHILD; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HEMOPHILIA A; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; PEDIGREE;

EID: 33747180117     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2006.02105.x     Document Type: Article

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