CFTR R1070: In cis mutations can account for apparent discordance between CFTR function and CF phenotype

被引:0
|
作者
Krasnov, K. V. [1 ]
Tzetis, M. [2 ]
Cheng, J. [1 ]
Germino, G. [1 ]
Guggino, W. B. [1 ]
Cutting, G. R. [1 ]
机构
[1] Johns Hopkins Sch Med, Baltimore, MD USA
[2] Univ Athens, Athens, Greece
关键词
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
216
引用
收藏
页码:277 / 278
页数:2
相关论文
共 2 条
  • [1] RESIDUAL CFTR CHLORIDE CHANNEL FUNCTION IN CF PATIENTS CARRYING R117H MUTATIONS
    Bronsveld, I
    Vernooij, A.
    de Jonge, H.
    Bot, A.
    Dankert, J.
    de Rijke, Y.
    PEDIATRIC PULMONOLOGY, 2011, : 273 - 274
  • [2] Ivacaftor modifies cystic fibrosis neutrophil phenotype in subjects with R117H residual function CFTR mutations
    Hardisty, Gareth R.
    Law, Sheonagh M.
    Carter, Suzanne
    Grogan, Brenda
    Singh, Pradeep K.
    McKone, Edward F.
    Gray, Robert D.
    EUROPEAN RESPIRATORY JOURNAL, 2021, 57 (01)