Literature DB >> 8592345

Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.

T Bienvenu, C Beldjord, J C Kaplan, D Hubert, D Dusser.   

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Year:  1995        PMID： 8592345      PMCID： PMC1051760          DOI： 10.1136/jmg.32.11.919

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.

Authors:  E Kanavakis; M Tzetis; T Antoniadi; J Trager-Synodinos; C Kattamis; S Doudounakis; G Adam
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

2.  Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.

Authors:  T Bienvenu; C Beldjord; N Fonknechten; J C Kaplan; G Lenoir
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

3.  Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.

Authors:  T Bienvenu; C Cazeneuve; J C Kaplan; C Beldjord
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

4.  Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

Authors:  P Fanen; N Ghanem; M Vidaud; C Besmond; J Martin; B Costes; F Plassa; M Goossens
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

5.  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
  5 in total

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