Literature DB >> 2135388

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

H Cuppens1, P Marynen, C De Boeck, F De Baets, E Eggermont, H Van den Berghe, J J Cassiman.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2135388      PMCID： PMC1017267          DOI： 10.1136/jmg.27.11.717

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


× No keyword cloud information.
  4 in total

1.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

2.  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

3.  A frame-shift mutation in the cystic fibrosis gene.

Authors:  M B White; J Amos; J M Hsu; B Gerrard; P Finn; M Dean
Journal:  Nature       Date:  1990-04-12       Impact factor: 49.962

4.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728
  4 in total
  23 in total

1.  Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.

Authors:  J Cheadle; L al-Jader; M Goodchild; A L Meredith
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

2.  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

3.  A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

Authors:  M Schloesser; S Arleth; U Lenz; R M Bertele; J Reiss
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

4.  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

5.  Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.

Authors:  J P Cheadle; A L Meredith; L Millar-Jones; M C Goodchild
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

6.  Two cystic fibrosis patients with the genotype G542X/G551D.

Authors:  J Reiss; U Ellermeyer; M Schloesser; W Fuhrmann; D Drews; H G Posselt
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

7.  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

8.  CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

Authors:  K Will; J Reiss; M Dean; M Schlösser; R Slomski; J Schmidtke; M Stuhrmann
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

9.  Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Authors:  A Hamosh; B C Trapnell; P L Zeitlin; C Montrose-Rafizadeh; B J Rosenstein; R G Crystal; G R Cutting
Journal:  J Clin Invest       Date:  1991-12       Impact factor: 14.808

10.  P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.

Authors:  A Gilfillan; J P Warner; J M Kirk; T Marshall; A Greening; L P Ho; T Hargreave; B Stack; D McIntyre; R Davidson; J C Dean; W Middleton; D J Brock
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.