title: Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.
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.
authors.affiliation: Department of Pediatrics, Johns Hopkins, University School of Medicine, Baltimore, MD 21205.
authors.forename: H
authors.initials: H
authors.lastname: Inaba
authors.forename: M
authors.initials: M
authors.lastname: Fujimaki
authors.forename: H H
authors.initials: HH
authors.lastname: Kazazian
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D003062:Codon; D015342:DNA Probes; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012333:RNA, Messenger
chemical_list: D003062:Codon; D015342:DNA Probes; D012333:RNA, Messenger; D005169:Factor VIII; D001120:Arginine; D007930:Leucine