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

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) CFTR mis...

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Vydáno v:Ital J Pediatr
Hlavní autoři: Terlizzi, Vito, Di Lullo, Antonella Miriam, Comegna, Marika, Centrone, Claudia, Pelo, Elisabetta, Castaldo, Giuseppe, Raia, Valeria, Braggion, Cesare
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5753463/
https://ncbi.nlm.nih.gov/pubmed/29298718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-017-0443-z
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