Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

BACKGROUND: Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes. Symptoms are pulmonary disease, pancreatic exocrine insufficiency, male in...

Descripción completa

Detalles Bibliográficos
Autores principales: D'Apice, Maria Rosaria, Gambardella, Stefano, Bengala, Mario, Russo, Silvia, Nardone, Anna Maria, Lucidi, Vincenzina, Sangiuolo, Federica, Novelli, Giuseppe
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC419352/
https://www.ncbi.nlm.nih.gov/pubmed/15084222
http://dx.doi.org/10.1186/1471-2350-5-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC419352/
https://www.ncbi.nlm.nih.gov/pubmed/15084222
http://dx.doi.org/10.1186/1471-2350-5-8

Ejemplares similares