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
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England: BioMed Central
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Language
English
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England: BioMed Central
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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 missense variant and evaluated the residual function of CFTR prot...
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Full title
S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy
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TN_cdi_doaj_primary_oai_doaj_org_article_ab302f6aac304ef38d1c2b39c69e181e
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ab302f6aac304ef38d1c2b39c69e181e
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ISSN
1824-7288
E-ISSN
1824-7288
DOI
10.1186/s13052-017-0443-z
