Can I read A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis on EtoBox?

A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis by J. L. Hinks; P. R. Winship; M. Makris; F. E. Preston; I. R. Peake; A. C. Goodeve is a Medicine article available to read on EtoBox.

What is A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis about?

Conformation sensitive gel electrophoresis (CSGE) was confirmed as an effective procedure for screening the factor IX (FIX) gene by detecting 10/10 previously known FIX gene mutations. The FIX genes of a further 11 haemophilia B patients with unknown mutations were then screened and an abnormal CSGE profile was identified in all cases. Subsequent DNA sequencing demonstrated one of these to be a novel mutation (31133insT, Arg338Fs), the remaining 10 having been previously reported on the haemophilia B database. Mutation screening of the FIX gene using CSGE was demonstrated to be a rapid and efficient means of carrier analysis in families with haemophilia B.

Who reads A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis?

Author

J. L. Hinks; P. R. Winship; M. Makris; F. E. Preston; I. R. Peake; A. C. Goodeve

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0007-1048)

Published

1999

Language

EN

Field

Medicine (Health Sciences)