Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients

BACKGROUND: The p.Leu1077Pro CFTR mutation was firstly described in 1992 as a mild allele that confers a pancreatic sufficiency phenotype but the information collected in database CFTR2 lead to consider p.Leu1077Pro as a severe CF mutation. Although it is typical of Southern Italy, p.Leu1077Pro is n...

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Detalles Bibliográficos
Autores principales: Parisi, Giuseppe Fabio, Cutello, Silvia, Di Dio, Giovanna, Rotolo, Novella, La Rosa, Mario, Leonardi, Salvatore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828422/
https://www.ncbi.nlm.nih.gov/pubmed/24225052
http://dx.doi.org/10.1186/1756-0500-6-461

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828422/
https://www.ncbi.nlm.nih.gov/pubmed/24225052
http://dx.doi.org/10.1186/1756-0500-6-461

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