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Genomic structure of the human congenital chloride diarrhea (CLD) gene

✍ Scribed by Siru Haila; Pia Höglund; Stephen W Scherer; Jeffrey R Lee; Paula Kristo; Beth Coyle; Richard Trembath; Christer Holmberg; Albert de la Chapelle; Juha Kere


Book ID
117523169
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
168 KB
Volume
214
Category
Article
ISSN
0378-1119

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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 show