Author/Editor		Audrezet, MP; Canki-Klain, N; Mercier, B; Bracar, D; Verlingue, C; Ferec, C
Title		Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients
Type		članek
Source		Hum Genet
Vol. and No.		Letnik 93, št. 6
Publication year		1994
Volume		str. 659-62
Language		eng
Abstract		Chromosomes from a cohort of 60 Slovenian families, corresponding to the 121 cystic fibrosis (CF) chromosomes available, were fully scanned for mutations in the coding sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (The 60 families yielded 121 CF alleles because the mother of one patient was also affected). This corresponds to the 27 exons and intron/exon boundaries that have been studied in chromosomes carrying unidentified alleles. As a result of this survey 84 percent of the alleles are now clearly identified and we describe in this paper three novel mutations (457 TAT-- more th. G, D192G, and Q685X).
Descriptors		CYSTIC FIBROSIS MEMBRANE PROTEINS MUTATION ALLELES BASE SEQUENCE COHORT STUDIES CYSTIC FIBROSIS DNA MOLECULAR SEQUENCE DATA SLOVENIA