These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: [From gene to disease; from defective chloride ion transport to cystic fibrosis]. Author: Scheffer H, van den Ouweland AM, Veeze HJ. Journal: Ned Tijdschr Geneeskd; 2001 Apr 07; 145(14):686-7. PubMed ID: 11530706. Abstract: Cystic fibrosis is an autosomal recessive disorder affecting the lungs, pancreas, intestines, sweat ducts and liver, due to an abnormal salt transport across the apical border of epithelial cells. Mutations in the CF underlying gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, result in most cell types in an misprocessing so that little of the protein reaches the membranes. In case of clinical suspicion and/or doubtful sweat test results, mutation analysis can support the diagnosis of CF. Also carrier detection is offered.[Abstract] [Full Text] [Related] [New Search]