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30 cystic fibrosis mutations spectra in Italy: a regional distribution

Book ID
118640183
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
92 KB
Volume
4
Category
Article
ISSN
1569-1993

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Screening of 62 mutations in a cohort of
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: Their incidence and clinical features of defined genotypes
✍ P. Gasparini; C. Marigo; G. Bisceglia; E. Nicolis; L. Zelante; C. Bombieri; G. B πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 467 KB

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. T h e total proportion o