Article
A cystic fibrosis mutation associated with mild lung disease.
The New England journal of medicine - 13 Jul 1995
Gan K H, Veeze H J, van den Ouweland A M, Halley D J, Scheffer H, van der Hout A, Overbeek S E, de Jongste J C, Bakker W, Heijerman H G
Abstract excerpt
BACKGROUND: Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Among Dutch patients with cystic fibrosis, delta F508 is the most common mutation and A455E the second most common mutation of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7. A455E is associated with preserved pancreatic function and residual secretion of chloride across membranes. We...
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