TY - JOUR
T1 - Analysis of 14 cystic fibrosis mutations in five South European populations
AU - Nunes, V.
AU - Gasparini, P.
AU - Noyelli, G.
AU - Gaona, A.
AU - Bonizzato, A.
AU - Sangiuolo, F.
AU - Balassopoulou, A.
AU - Giménez, F. J.
AU - Dognini, M.
AU - Ravnik-Glavac, M.
AU - Cikuli, M.
AU - Mokini, V.
AU - Komel, R.
AU - Dallapiccola, B.
AU - Pignatti, P. F.
AU - Loukopoulos, D.
AU - Casals, T.
AU - Estivill, X.
PY - 1991/10
Y1 - 1991/10
N2 - 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 ΔF508, 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, ΔI507, 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.
AB - 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 ΔF508, 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, ΔI507, 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.
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U2 - 10.1007/BF00201737
DO - 10.1007/BF00201737
M3 - Article
C2 - 1937479
AN - SCOPUS:0026004723
VL - 87
SP - 737
EP - 738
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 6
ER -