Literature DB >> 7692049

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

T Bienvenu, C Beldjord, N Fonknechten, J C Kaplan, G Lenoir.   

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Year:  1993        PMID： 7692049      PMCID： PMC1016479          DOI： 10.1136/jmg.30.7.621-c

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


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  2 in total

1.  Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.

Authors:  M Desgeorges; M Laussel; B Rollin; J Demaille; M Claustres
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

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

Authors:  T Bienvenu; C Beldjord; J C Kaplan; D Hubert; D Dusser
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318
  2 in total

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