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Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
I.R.C.C.S.-C.S.S., Verona, Italy.
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.
PMID: 7504969 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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N1303K mutation and diabetes mellitus in cystic fibrosis.
Cotellessa M, Mazzella M, Bruno C, Buzzanca C, Minicucci L, Gandino M, Romano L, Romano C.
Arch Dis Child. 1996 Dec; 75(6):546.
[Arch Dis Child. 1996]
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Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.
Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Salvatore F.
J Med Genet. 1996 Jun; 33(6):475-9.
[J Med Genet. 1996]
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Cystic fibrosis carrier screening in Hispanics.
Arzimanoglou II, Tuchman A, Li Z, Gilbert F, Denning C, Valverde K, Zar H, Quittell L, Arzimanoglou I.
Am J Hum Genet. 1995 Feb; 56(2):544-7.
[Am J Hum Genet. 1995]
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