We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from delta F508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a frequency of less than 1% (R347P, R334W, S549RA, S549I, G551D, R553X and W1282X), and four mutations (D110H, delta I507, S549RT, and S1255X) were not found in this sample. The data presented here allows the use of mutation analysis in 69.5% of Spanish, 58% of Greek, and 56.5% of Italian CF cases.

Nunes, V., Gasparini, P., Novelli, G., Gaona, A., Bonizzato, A., Sangiuolo, F.c., et al. (1991). Analysis of 14 cystic fibrosis mutations in five south European populations. HUMAN GENETICS, 87(6), 737-738.

Analysis of 14 cystic fibrosis mutations in five south European populations

NOVELLI, GIUSEPPE;SANGIUOLO, FEDERICA CARLA;
1991

Abstract

We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from delta F508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a frequency of less than 1% (R347P, R334W, S549RA, S549I, G551D, R553X and W1282X), and four mutations (D110H, delta I507, S549RT, and S1255X) were not found in this sample. The data presented here allows the use of mutation analysis in 69.5% of Spanish, 58% of Greek, and 56.5% of Italian CF cases.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
Albania; Cystic Fibrosis; Greece; Humans; Italy; Spain; Yugoslavia; Mutation
Nunes, V., Gasparini, P., Novelli, G., Gaona, A., Bonizzato, A., Sangiuolo, F.c., et al. (1991). Analysis of 14 cystic fibrosis mutations in five south European populations. HUMAN GENETICS, 87(6), 737-738.
Nunes, V; Gasparini, P; Novelli, G; Gaona, A; Bonizzato, A; Sangiuolo, Fc; Balassopoulou, A; Giménez, F; Dognini, M; Ravnik Glavac, M
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/166549
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