A novel mutation of the down-regulated in adenoma (DRA) gene in a Japanese case with congenital chloride diarrhea
โ Scribed by Etani, Y.; Mushiake, S.; Tajiri, H.; Miki, K.; Kozaiwa, K.; Sawada, A.; Tada, K.; Ozono, K.; Okada, S.
- Book ID
- 123282356
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 174 KB
- Volume
- 114
- Category
- Article
- ISSN
- 0016-5085
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๐ SIMILAR VOLUMES
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
## Communicated by Mireille Claustres Congenital chloride diarrhea (CLD) is an autosomal recessive disorder characterized by defective intestinal electrolyte absorption, resulting in voluminous osmotic diarrhea with high chloride content. A variety of mutations in the solute carrier family 26, memb