Literature DB >> 7512145

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

M Desgeorges, M Laussel, B Rollin, J Demaille, M Claustres.   

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Year:  1994        PMID： 7512145      PMCID： PMC1049616          DOI： 10.1136/jmg.31.1.84-a

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


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  13 in total

1.  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

2.  Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.

Authors:  A L Beaudet; R G Perciaccante; G R Cutting
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

3.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

4.  A cystic fibrosis patient homozygous for the nonsense mutation R553X.

Authors:  J Bal; M Stuhrmann; M Schloesser; J Schmidtke; J Reiss
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

5.  Cystic fibrosis in Bulgaria.

Authors:  L Kalaydjieva; D Angelicheva; I Galeva; V Lalov; D Konstantinova
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

6.  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

7.  A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Authors:  H Cuppens; P Marynen; C De Boeck; F De Baets; E Eggermont; H Van den Berghe; J J Cassiman
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

8.  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

9.  Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Authors:  P Gasparini; G Borgo; G Mastella; A Bonizzato; M Dognini; P F Pignatti
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

10.  Premature translation termination mediates triosephosphate isomerase mRNA degradation.

Authors:  I O Daar; L E Maquat
Journal:  Mol Cell Biol       Date:  1988-02       Impact factor: 4.272
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