Article
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.
The American journal of physiology - 1 Jan 1999
Moseley R H, Höglund P, Wu G D, Silberg D G, Haila S, de la Chapelle A, Holmberg C, Kere J
Abstract excerpt
Congenital chloride diarrhea (CLD) is a recessively inherited disorder characterized by massive loss of chloride in stool. We previously identified mutations in the downregulated in adenoma (DRA) gene in patients with CLD and demonstrated that DRA encodes an intestine-specific sulfate transporter. To determine whether DRA is an intestinal chloride transporter and how mutations affect transport, Xenopus oocytes...
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