Article
Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.
The Journal of molecular diagnostics : JMD - 1 Sept 2011
Fresquet Fleur, Clement Romain, Norez Caroline, Sterlin Adélaïde, Melin Patricia, Becq Frédéric, Kitzis Alain, Thoreau Vincent, Bilan Frédéric
Abstract excerpt
More than 1860 mutations have been found within the human cystic fibrosis transmembrane conductance regulator (CFTR) gene sequence. These mutations can be classified according to their degree of severity in CF disease. Although the most common mutations are well characterized, few data are available for rare mutations. Thus, genetic counseling is particularly difficult when fetuses or patients with CF present...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.