Literature DB >> 1284626

Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene.

N Fonknechten1, J C Chomel, A Kitzis, A Kahn, J C Kaplan.   

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Year:  1992        PMID： 1284626     DOI： 10.1093/hmg/1.4.281

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


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  3 in total

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

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.  Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.

Authors:  T Bienvenu; D Hubert; N Fonknechten; D Dusser; J C Kaplan; C Beldjord
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132
  3 in total

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