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 language | English (US) |
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Pages (from-to) | 335-338 |
Number of pages | 4 |
Journal | Human genetics |
Volume | 81 |
Issue number | 4 |
DOIs | |
State | Published - Mar 1 1989 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)