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Pflugers Arch. 2001;443 Suppl 1:S3-7. Epub 2001 Jul 7.

Cystic fibrosis and CFTR.

Author information

  • 1Physiologisches Institut, Albert-Ludwigs Universität, Hermann-Herder-Strasse 7, 79104 Freiburg, Germany.

Abstract

Cystic fibrosis (CF) is a complex disease affecting epithelial ion transport. There are not many diseases like CF that have triggered such intense research activities. The complexity of the disease is due to mutations in the CFTR protein, now known to be a Cl(-) channel and a regulator of other transport proteins. The various interactions and the large number of disease-causing CFTR mutations is the reason for a variable genotype-phenotype correlation and sometimes unpredictable clinical manifestation. Nevertheless, the research of the past 10 years has resulted in a tremendous increase in knowledge, not only in regard to CFTR but also in regard to molecular interactions and completely new means of ion channel and gene therapy.

PMID:
11845294
[PubMed - indexed for MEDLINE]
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