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 journalArticlepeer-review

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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