Literature DB >> 7683954

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

V Nunes1, M Chillón, T Dörk, B Tümmler, T Casals, X Estivill.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 7683954     DOI： 10.1093/hmg/2.1.79

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


× No keyword cloud information.
  8 in total

1.  Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

Authors:  C Vazquez; G Antiñolo; T Casals; J Dapena; J Elorz; J L Seculi; J Sirvent; R Cabanas; C Soler; X Estivill
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Authors:  K Will; T Dörk; M Stuhrmann; T Meitinger; R Bertele-Harms; B Tümmler; J Schmidtke
Journal:  J Clin Invest       Date:  1994-04       Impact factor: 14.808

3.  Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.

Authors:  C Verlingue; B Mercier; I Lecoq; M P Audrézet; D Laroche; G Travert; C Férec
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

4.  Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.

Authors:  T Casals; L Bassas; J Ruiz-Romero; M Chillón; J Giménez; M D Ramos; G Tapia; H Narváez; V Nunes; X Estivill
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

5.  A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

Authors:  M Chillón; T Casals; J Giménez; V Nunes; X Estivill
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

6.  Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.

Authors:  X Estivill; L Ortigosa; J Pérez-Frias; J Dapena; J Ferrer; L Peña; L Peña; R Llevadot; J Giménez; V Nunes
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

7.  Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Authors:  N Morral; R Llevadot; T Casals; P Gasparini; M Macek; T Dörk; X Estivill
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

8.  Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.

Authors:  T Dörk; F Mekus; K Schmidt; J Bosshammer; R Fislage; T Heuer; V Dziadek; T Neumann; N Kälin; U Wulbrand
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.