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Case Reports
. 1989 Mar;81(4):335-8.
doi: 10.1007/BF00283686.

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

H Inaba  1 , M Fujimaki, H H Kazazian Jr, S E Antonarakis
Affiliations
Case Reports

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

H Inaba et al. Hum Genet. 1989 Mar.

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.

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References

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