Article
Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.
Journal of molecular medicine (Berlin, Germany) - 1 Sept 2002
Du Ming, Jones Julie R, Lanier Jessica, Keeling Kim M, Lindsey J Russell, Tousson Albert, Bebök Zsuzsa, Whitsett Jeffrey A, Dey Chitta R, Colledge William H, Evans Martin J, Sorscher Eric J, Bedwell David M
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Since approximately 5% of all mutant CF alleles are stop mutations, it can be calculated that approximately 10% of CF patients carry a premature stop mutation in at least one copy of the CFTR gene. Certain ethnic groups, such as the Ashkenazi Jewish population, carry a much...
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