The ΔF508 mutation in cystic fibrosis patients of Southern Italy

Gianfranco Sebastio; Ornella Castiglione; Barbara Incerti; Donatello Salvatore; Francesca Santamaria

doi:10.1007/BF02428299

The ΔF508 mutation in cystic fibrosis patients of Southern Italy

Gianfranco Sebastio, Ornella Castiglione, Barbara Incerti, Donatello Salvatore, Francesca Santamaria

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

Fifty one independent cystic fibrosis (CF) families originating from a restricted area of Southern Italy (Campania) have been analyzed for KM19 and XV2c haplotypes and the ΔF508 mutation: 54% of the total CF chromosomes show the ΔF508 mutation. No significative correlations were obtained when clinical score, radiological score, Pseudomonas colonization, or clinical symptoms at presentation were matched with the presence or absence of the ΔF508 mutation.

Original language	English
Pages (from-to)	430-431
Number of pages	2
Journal	Human Genetics
Volume	85
Issue number	4
DOIs	https://doi.org/10.1007/BF02428299
Publication status	Published - Sep 1990

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "The ΔF508 mutation in cystic fibrosis patients of Southern Italy",

abstract = "Fifty one independent cystic fibrosis (CF) families originating from a restricted area of Southern Italy (Campania) have been analyzed for KM19 and XV2c haplotypes and the ΔF508 mutation: 54% of the total CF chromosomes show the ΔF508 mutation. No significative correlations were obtained when clinical score, radiological score, Pseudomonas colonization, or clinical symptoms at presentation were matched with the presence or absence of the ΔF508 mutation.",

author = "Gianfranco Sebastio and Ornella Castiglione and Barbara Incerti and Donatello Salvatore and Francesca Santamaria",

year = "1990",

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AU - Sebastio, Gianfranco

AU - Castiglione, Ornella

AU - Incerti, Barbara

AU - Salvatore, Donatello

AU - Santamaria, Francesca

PY - 1990/9

Y1 - 1990/9

N2 - Fifty one independent cystic fibrosis (CF) families originating from a restricted area of Southern Italy (Campania) have been analyzed for KM19 and XV2c haplotypes and the ΔF508 mutation: 54% of the total CF chromosomes show the ΔF508 mutation. No significative correlations were obtained when clinical score, radiological score, Pseudomonas colonization, or clinical symptoms at presentation were matched with the presence or absence of the ΔF508 mutation.

AB - Fifty one independent cystic fibrosis (CF) families originating from a restricted area of Southern Italy (Campania) have been analyzed for KM19 and XV2c haplotypes and the ΔF508 mutation: 54% of the total CF chromosomes show the ΔF508 mutation. No significative correlations were obtained when clinical score, radiological score, Pseudomonas colonization, or clinical symptoms at presentation were matched with the presence or absence of the ΔF508 mutation.

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The ΔF508 mutation in cystic fibrosis patients of Southern Italy

Abstract

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