Moderately severe hemophilia A resulting from Glu→Gly substitution in exon 7 of the factor VIII gene

H. Youssoufian, C. Wong, S. Aronis, H. Platokoukis, H. H. Kazazian, S. E. Antonarakis

Research output: Contribution to journalArticle

Abstract

To define the molecular basis of a TaqI site alteration in the factor VIII gene of a patient with moderately severe hemophilia A, we used a combination of genomic amplification followed by direct sequencing and oligonucleotide hybridization, to demonstrate an A-to-G substitution in exon 7 (codon 291) of this gene. This mutation generates a Gly in place of Glu at amino acid 272 of the mature factor VIII protein. The mutation arose de novo in a germ cell of the patient's mother.

Original languageEnglish (US)
Pages (from-to)867-871
Number of pages5
JournalAmerican journal of human genetics
Volume42
Issue number6
StatePublished - Jan 1 1988

    Fingerprint

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Youssoufian, H., Wong, C., Aronis, S., Platokoukis, H., Kazazian, H. H., & Antonarakis, S. E. (1988). Moderately severe hemophilia A resulting from Glu→Gly substitution in exon 7 of the factor VIII gene. American journal of human genetics, 42(6), 867-871.