Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 13 June 1986:
Vol. 232. no. 4756, pp. 1415 - 1416
DOI: 10.1126/science.3012775
Prev | Table of Contents | Next

Articles

Science, Vol 232, Issue 4756, 1415-1416
Copyright © 1986 by American Association for the Advancement of Science

articles

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

J Gitschier, WI Wood, MA Shuman, and RM Lawn

DNA probes derived from the cloned factor VIII gene can be used to detect mutations in the factor VIII gene of hemophiliacs. DNA hybridization analysis led to the identification of two contrasting point mutations in the same codon. In a severe hemophiliac with no detectable factor VIII activity, the normal arginine codon (number 2307) is converted to a stop codon, while in a mild hemophiliac with 10 percent of normal activity, this same codon is converted to glutamine.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor.
M. Jacquemin, R. Lavend'homme, A. Benhida, B. Vanzieleghem, R. d'Oiron, J.-M. Lavergne, H. H. Brackmann, R. Schwaab, T. VandenDriessche, M. K. L. Chuah, et al. (2000)
Blood 96, 958-965
   Abstract »    Full Text »    PDF »
The Life Cycle of Coagulation Factor VIII in View of Its Structure and Function.
P. J. Lenting, J. A. van Mourik, and K. Mertens (1998)
Blood 92, 3983-3996
   Full Text »    PDF »
Factor VIII C2 Domain Missense Mutations Exhibit Defective Trafficking of Biologically Functional Proteins.
S. W. Pipe and R. J. Kaufman (1996)
J. Biol. Chem. 271, 25671-25676
   Abstract »    Full Text »    PDF »
Cloned Factor VIII and the Molecular Genetics of Hemophilia.
R.M. Lawn, W.I. Wood, J. Gitschier, K.L. Wion, D. Eaton, G.A. Vehar, and E.G.D. Tuddenham (1986)
Cold Spring Harb Symp Quant Biol 51, 365-369
   Abstract »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)