Article
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
Journal of medical case reports - 10 Oct 2014
Dell'Edera Domenico, Benedetto Michele, Gadaleta Gemma, Carone Domenico, Salvatore Donatello, Angione Antonella, Gallo Massimiliano, Milo Michele, Pisaturo Maria Laura, Di Pierro Giuseppe, Mazzone Eleonora, Epifania Annunziata Anna
Abstract excerpt
INTRODUCTION: Cystic fibrosis is the most common autosomal recessive genetic disease in the Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing. METHODS: This study reports the results of a molecular screening of cystic fibrosis using DNA...
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