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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Bibliographic Details
Main Authors: Parisi, Giuseppe Fabio, Cutello, Silvia, Di Dio, Giovanna, Rotolo, Novella, La Rosa, Mario, Leonardi, Salvatore
Format: Artigo
Language:Inglês
Published: BioMed Central 2013
Subjects:
Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3828422/
https://ncbi.nlm.nih.gov/pubmed/24225052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-6-461
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