Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene
- 1 March 1989
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 81 (4) , 335-338
- https://doi.org/10.1007/bf00283686
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.Keywords
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