Literature DB >> 7681035

Two cystic fibrosis patients with the genotype G542X/G551D.

J Reiss1, U Ellermeyer, M Schloesser, W Fuhrmann, D Drews, H G Posselt.   

Abstract

Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. Both patients exhibit a relatively benign clinical course. In the described patients, G542X functions as a "mild" allele and is, in this respect, dominant to the "severe" G551D.

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Year:  1993        PMID： 7681035     DOI： 10.1007/bf00230228

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.

Authors:  M Bonduelle; W Lissens; I Liebaers; A Malfroot; I Dab
Journal:  Lancet       Date:  1991-07-20       Impact factor: 79.321

2.  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

3.  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

4.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

5.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

6.  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

7.  Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; R Rozmahel; D Bozon; B Kerem; Z Grzelczak; J R Riordan; J Rommens; L C Tsui
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

8.  Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-delta F508 mutations in German cystic fibrosis patients.

Authors:  J Plieth; F Rininsland; M Schlösser; D N Cooper; J Reiss
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

9.  Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

Authors:  A Hamosh; T M King; B J Rosenstein; M Corey; H Levison; P Durie; L C Tsui; I McIntosh; M Keston; D J Brock
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025
  9 in total

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