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http://purl.uniprot.org/citations/7504969http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/7504969http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/7504969http://www.w3.org/2000/01/rdf-schema#comment"The frequency of 62 different CFTR mutations in 225 chromosomes from a CF birth cohort, which includes all the affected subjects born in northeast Italy during a 10-year period of time, was investigated. New mutations were also searched by the analysis of 15 different exons. The total proportion of CF chromosomes with detectable mutations is 73.78%. Therefore although a considerable improvement in CF mutation detection in our population has been achieved, the search for other common and uncommon mutations should be continued. Moreover a carrier screening program should be postponed until reaching a cumulative proportion of known CF alleles of at least 90%. The correlations between the genotypes which have been identified and the main clinical features added some new information to the classification of CF mutations as pancreatically severe or mild ones."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.org/dc/terms/identifier"doi:10.1002/humu.1380020511"xsd:string
http://purl.uniprot.org/citations/7504969http://purl.org/dc/terms/identifier"doi:10.1002/humu.1380020511"xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Pignatti P.F."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Pignatti P.F."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Gasparini P."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Gasparini P."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Zelante L."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Zelante L."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Cabrini G."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Cabrini G."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Marigo C."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Marigo C."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Bisceglia G."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Bisceglia G."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Bombieri C."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Bombieri C."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Borgo G."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Borgo G."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Nicolis E."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/author"Nicolis E."xsd:string
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/date"1993"xsd:gYear
http://purl.uniprot.org/citations/7504969http://purl.uniprot.org/core/date"1993"xsd:gYear