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Literature DB >> 7516305

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.

M P Audrézet¹, N Canki-Klain, B Mercier, D Bracar, C Verlingue, C Férec.

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% of the alleles are now clearly identified and we describe in this paper three novel mutations (457 TAT-->G, D192G, and Q685X).

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1994 PMID： 7516305 DOI： 10.1007/bf00201566

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

23 in total

1. The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

Authors: P Gasparini; V Nunes; A Savoia; M Dognini; N Morral; A Gaona; A Bonizzato; M Chillon; F Sangiuolo; G Novelli
Journal: Genomics Date: 1991-05 Impact factor: 5.736

2. Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients.

Authors: B B Dabović; D Radojković; P Minić; J Savić; A Savić
Journal: Hum Genet Date: 1992-03 Impact factor: 4.132

3. delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population.

Authors: L Simova; C Williams; G D Efremov; A Gordova-Muratovska; S Sustić; E K Watson; R Williamson
Journal: Hum Genet Date: 1990-09 Impact factor: 4.132

4. Identification of 12 novel mutations in the CFTR gene.

Authors: M P Audrézet; B Mercier; H Guillermit; I Quéré; C Verlingue; G Rault; C Férec
Journal: Hum Mol Genet Date: 1993-01 Impact factor: 6.150

5. Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.

Authors: D Glavac; M Ravnik-Glavac; M Dean
Journal: Hum Mol Genet Date: 1993-03 Impact factor: 6.150

6. Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors: U B Gyllensten; H A Erlich
Journal: Proc Natl Acad Sci U S A Date: 1988-10 Impact factor: 11.205

1. Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes.

Authors: J Xie; M L Drumm; J Zhao; J Ma; P B Davis
Journal: Biophys J Date: 1996-12 Impact factor: 4.033

1 in total

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.

1. The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

2. Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients.

3. delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population.

4. Identification of 12 novel mutations in the CFTR gene.

5. Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.

6. Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

7. Detection and localization of single base changes by denaturing gradient gel electrophoresis.

8. Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.

9. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

10. Identification of the cystic fibrosis gene: chromosome walking and jumping.

1. Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes.