Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female

Blood

Volumn 96, Issue 13, 2000, Pages 4373-4375

  Favier, Rémi ^b   Lavergne, Jean Maurice ^b   Costa, Jean Marc ^b   Caron, Claudine ^b   Mazurier, Claudine ^b   Viémont, Michèle ^b   Delpech, Marc ^a   Valleix, Sophie ^b  

^a Lab de Biochim et Genet Molec   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

ARTICLE; CASE REPORT; CODON; DNA METHYLATION; ENZYMOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENETICS; GENOME IMPRINTING; HAPLOTYPE; HEMOPHILIA A; HUMAN; LYMPHOCYTE; METABOLISM; PRESCHOOL CHILD; REGULATOR GENE;

CHILD, PRESCHOOL; CODON; DNA METHYLATION; DOSAGE COMPENSATION, GENETIC; FACTOR VIII; FEMALE; FRAMESHIFT MUTATION; GENOMIC IMPRINTING; HAPLOTYPES; HEMOPHILIA A; HUMANS; LYMPHOCYTES; RECEPTORS, ANDROGEN; TERMINATOR REGIONS (GENETICS); VON WILLEBRAND FACTOR;

EID: 0034672155     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.13.4373.h8004373_4373_4375     Document Type: Article

References (15)

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