Literature DB >> 7687986

CF2603/4delT, a new frameshift mutation in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

B Ezquieta1, J Molano.   

Abstract

By using temperature gradient gel electrophoresis to screen for mutations in cystic fibrosis (CF) patients, we have found a new mutation in the CF transmembrane conductance regulator gene. It is a frameshift mutation named CF2603/4delT located at the 3'-end of exon 13. A thymidine at position 2603 or 2604 is lost. The mutation eliminates an MseI site and, therefore, can be screened by restriction enzyme analysis.

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Year:  1993        PMID： 7687986     DOI： 10.1007/bf00205090

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


  11 in total

1.  Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families.

Authors:  M Chillón; V Nunes; T Casals; F J Giménez; E Fernández; J Benítez; X Estivill
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

2.  Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Authors:  B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

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

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

4.  A frame-shift mutation in the cystic fibrosis gene.

Authors:  M B White; J Amos; J M Hsu; B Gerrard; P Finn; M Dean
Journal:  Nature       Date:  1990-04-12       Impact factor: 49.962

5.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; J Zielenski; L C Tsui; S E Antonarakis; H H Kazazian
Journal:  Nature       Date:  1990-07-26       Impact factor: 49.962

6.  Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  T Dörk; U Wulbrand; T Richter; T Neumann; H Wolfes; B Wulf; G Maass; B Tümmler
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

7.  Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

Authors:  M B White; L J Krueger; D S Holsclaw; B C Gerrard; C Stewart; L Quittell; G Dolganov; V Baranov; T Ivaschenko; N I Kapronov
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

8.  Analysis of 14 cystic fibrosis mutations in five south European populations.

Authors:  V Nunes; P Gasparini; G Novelli; A Gaona; A Bonizzato; F Sangiuolo; A Balassopoulou; F J Giménez; M Dognini; M Ravnik-Glavac
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

Review 9.  Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

Authors:  L C Tsui
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

10.  Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

Authors:  R Granell; J Solera; S Carrasco; J Molano
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025
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  1 in total

1.  Complementary strand analysis: a new approach for allelic separation in complex polyallelic genetic systems.

Authors:  R Arguello; A L Pay; A McDermott; J Ross; P Dunn; H Avakian; A M Little; J Goldman; J A Madrigal
Journal:  Nucleic Acids Res       Date:  1997-06-01       Impact factor: 16.971
  1 in total

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