Literature DB >> 1712883

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

M Bonduelle, W Lissens, I Liebaers, A Malfroot, I Dab.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 1712883     DOI： 10.1016/0140-6736(91)90181-n

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  4 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.  Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.

Authors:  W Lissens; S Desmyttere; M Bonduelle; I Dab; I Liebaers; B Mercier; M P Audrezet; C Ferec
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

3.  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

4.  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
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.