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

• Main Authors: Vito Terlizzi (Author), Antonella Miriam Di Lullo (Author), Marika Comegna (Author), Claudia Centrone (Author), Elisabetta Pelo (Author), Giuseppe Castaldo (Author), Valeria Raia (Author), Cesare Braggion (Author)
• Format: Book
• Published: BMC, 2018-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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)...