PMID: 2495245Mar 1, 1989Paper

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

Human Genetics
H InabaS E Antonarakis

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.

References

Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·F SangerA R Coulson
Oct 3, 1985·The New England Journal of Medicine·S E AntonarakisD N Fass
Jun 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·H YoussoufianH H Kazazian
Apr 11, 1980·Nucleic Acids Research·A P Bird
Nov 22, 1984·Nature·J GitschierR M Lawn
Nov 22, 1984·Nature·G A VeharD J Capon
Jul 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·M D BigginG F Hong

❮ Previous
Next ❯

Citations

Apr 25, 2000·Indian Journal of Pediatrics·R SaxenaV P Choudhry
Oct 11, 1991·Proceedings of the National Academy of Sciences of the United States of America·M HiguchiH H Kazazian
Mar 1, 1993·British Journal of Haematology·R SchwaabK Olek
Jan 1, 1991·Annals of the New York Academy of Sciences·J Gitschier
Nov 18, 2008·Advances in Genetics·Nick Orr, Stephen Chanock
Jan 1, 1995·Human Mutation·S E AntonarakisE G Tuddenham
Oct 11, 1996·The Journal of Biological Chemistry·S W Pipe, R J Kaufman
May 1, 1990·International Journal of STD & AIDS·P A Kitchin

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.