Literature DB >> 7686577

Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.

W Lissens, S Desmyttere, M Bonduelle, I Dab, I Liebaers, B Mercier, M P Audrezet, C Ferec.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 7686577      PMCID： PMC1016403          DOI： 10.1136/jmg.30.5.446

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


× No keyword cloud information.
  5 in total

1.  No CFTR: are CF symptoms milder?

Authors:  J J Wine
Journal:  Nat Genet       Date:  1992-04       Impact factor: 38.330

2.  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

3.  Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; L C Tsui; H H Kazazian; S E Antonarakis
Journal:  N Engl J Med       Date:  1990-12-13       Impact factor: 91.245

4.  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

5.  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
  5 in total
  1 in total

1.  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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.