Article
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.
Human mutation - 1 Jan 1998
Höglund P, Haila S, Gustavson K H, Taipale M, Hannula K, Popinska K, Holmberg C, Socha J, de la Chapelle A, Kere J
Abstract excerpt
An inherited defect in intestinal anion exchange, congenital chloride diarrhea (CLD), was recently shown to be caused by mutations in the down-regulated in adenoma (DRA) gene. A three base pair deletion resulting in the loss of an amino acid valine (V317del) in the predicted CLD/DRA protein was shown to be responsible for all CLD cases in a Finnish founder population. Two additional mutations, H124L and 344delT,...
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