Avtor/Urednik		Audrezet, MP; Canki-Klain, N; Mercier, B; Bracar, D; Verlingue, C; Ferec, C
Naslov		Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients
Tip		članek
Vir		Hum Genet
Vol. in št.		Letnik 93, št. 6
Leto izdaje		1994
Obseg		str. 659-62
Jezik		eng
Abstrakt		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).
Deskriptorji		CYSTIC FIBROSIS MEMBRANE PROTEINS MUTATION ALLELES BASE SEQUENCE COHORT STUDIES CYSTIC FIBROSIS DNA MOLECULAR SEQUENCE DATA SLOVENIA