Analysis of 14 cystic fibrosis mutations in five South European populations

Autor:	V. Nunes, P. Gasparini, G. Noyelli, A. Gaona, A. Bonizzato, F. Sangiuolo, A. Balassopoulou, F.J. Gim�nez, M. Dognini, M. Ravnik-Glavac, M. Cikuli, V. Mokini, R. Komel, B. Dallapiccola, P.F. Pignatti, D. Loukopoulos, T. Casals, X. Estivill
Rok vydání:	1991
Předmět:	medicine.medical_specialty Mutation Albania Cystic Fibrosis Greece Humans Italy Spain Yugoslavia Biology medicine.disease medicine.disease_cause Cystic fibrosis Endocrinology Settore MED/03 - Genetica Medica Internal medicine Genetics medicine Genetics (clinical) Demography
Zdroj:	Human Genetics. 87
ISSN:	1432-1203 0340-6717
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f5501a6c9bd5bfb227465e12db8922b https://doi.org/10.1007/bf00201737 Zobrazit plný text záznamu Full text from SpringerLink