S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy

S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy

Abstract Background An increasing number of patients have been described as having a number of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks a clear genotype–phenotype correlation. We assesses the clinical features of patients bearing the S737F (p.Ser737Phe)...

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Bibliographic Details
Main Authors: Vito Terlizzi, Antonella Miriam Di Lullo, Marika Comegna, Claudia Centrone, Elisabetta Pelo, Giuseppe Castaldo, Valeria Raia, Cesare Braggion
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Italian Journal of Pediatrics
Subjects:
Cystic fibrosis
CFTR
Nasal brushing
Functional analysis
Gating
Genotype-phenotype correlation
Online Access:http://link.springer.com/article/10.1186/s13052-017-0443-z

Internet

http://link.springer.com/article/10.1186/s13052-017-0443-z

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