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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

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...

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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4196456/
https://ncbi.nlm.nih.gov/pubmed/25304080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-8-339
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