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Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

✍ Scribed by Höglund, Pia; Haila, Siru; Socha, Jerzy; Tomaszewski, Leszek; Saarialho-Kere, Ulpu; Karjalainen-Lindsberg, Marja-Liisa; Airola, Kristiina; Holmberg, Christer; de la Chapelle, Albert; Kere, Juha

Book ID
109918624
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
658 KB
Volume
14
Category
Article
ISSN
1061-4036

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Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
✍ Pia Höglund; Siru Haila; Karl-Henrik Gustavson; Mikko Taipale; Katariina Hannula 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB

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