Article
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.
The Journal of clinical investigation - 1 Dec 2001
Bronsveld I, Mekus F, Bijman J, Ballmann M, de Jonge H R, Laabs U, Halley D J, Ellemunter H, Mastella G, Thomas S, Veeze H J, Tümmler B
Abstract excerpt
To investigate the impact of chloride (Cl(-)) permeability, mediated by residual activity of the cystic fibrosis transmembrane conductance regulator (CFTR) or by other Cl(-) channels, on the manifestations of cystic fibrosis (CF), we determined Cl(-) transport properties of the respiratory and intestinal tracts in Delta F508 homozygous twins and siblings. In the majority of patients, cAMP and/or Ca(2+)-regulated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.