Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

Hiroshi Inaba, Michio Fujimaki, Haig H. Kazazian, Stylianos E. Antonarakis

Research output: Contribution to journalArticlepeer-review

Abstract

Polymerase chain reaction amplification and nucleotide sequencing were used to identify the molecular defect in a Japanese patient with mild hemophilia A and an alteration of a TaqI site in exon 26 of the factor VIII gene. The mutation was a G-to-T transversion in codon 2326 of the factor VIII gene resulting in an Arg-to-Leu substitution at amino acid 2307 of the protein. The mutation, which is not of the common CG-to-TG type, is at the same codon in which both nonsense and a different missense (Arg to Gln) have previously been observed.

Original languageEnglish (US)
Pages (from-to)335-338
Number of pages4
JournalHuman genetics
Volume81
Issue number4
DOIs
StatePublished - Mar 1 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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