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Article

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

BMC research notes - 13 Nov 2013

Parisi Giuseppe Fabio, Cutello Silvia, Di Dio Giovanna, Rotolo Novella, La Rosa Mario, Leonardi Salvatore

Abstract excerpt

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 not included in the mutation panel firstly tested in individuals originated from this area. The aim of our study was...

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Source

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Identifiers

PMID: 24225052
DOI: 10.1186/1756-0500-6-461
PMCID: PMC3828422

Genes

CFTR

Variants

Provenance

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Source receipt: pubmed, retrieved 6 Sept 2026.

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