Literature DB >> 11295849

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene.

D Feldmann1, F Laroze, C Troadec, A Clement, G Tournier, R Couderc.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11295849     DOI： 10.1002/humu.50

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  2 in total

1.  Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

Authors:  Kang Mo Ahn; Hwa Young Park; Ji Hyun Lee; Min Goo Lee; Jeong Ho Kim; Im Ju Kang; Sang Il Lee
Journal:  J Korean Med Sci       Date:  2005-02       Impact factor: 2.153

2.  Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients.

Authors:  Francesca Salvatori; Giulia Breveglieri; Cristina Zuccato; Alessia Finotti; Nicoletta Bianchi; Monica Borgatti; Giordana Feriotto; Federica Destro; Alessandro Canella; Eleonora Brognara; Ilaria Lampronti; Laura Breda; Stefano Rivella; Roberto Gambari
Journal:  Am J Hematol       Date:  2009-11       Impact factor: 10.047
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.