Article
CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis.
Gastroenterology - 1 Oct 2004
Hirtz Stephanie, Gonska Tanja, Seydewitz Hans H, Thomas Jörg, Greiner Peter, Kuehr Joachim, Brandis Matthias, Eichler Irmgard, Rocha Herculano, Lopes Ana-Isabel, Barreto Celeste, Ramalho Anabela, Amaral Margarida D, Kunzelmann Karl, Mall Marcus
Abstract excerpt
BACKGROUND & AIMS: Cystic fibrosis (CF) is caused by over 1000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and presents with a widely variable phenotype. Genotype-phenotype studies identified CFTR mutations that were associated with pancreatic sufficiency (PS). Residual Cl- channel function was shown for selected PS mutations in heterologous cells. However, the functional...
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