Article
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.
American journal of human genetics - 1 Sept 1998
Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, de la Chapelle A, Kere J
Abstract excerpt
Congenital chloride diarrhea (CLD) is an inherited intestinal disorder caused by mutations in the down-regulated in adenoma gene. In Finland, the disease is prevalent because of a founder effect, and all but one of the CLD-associated chromosomes carry the same mutation, V317del. In Poland, anothe...
Topics
- Chlorides
- DNA Transposable Elements
- Diarrhea
- Female
- Finland
- Frameshift Mutation
- Genetic Variation
- Humans
- Incidence
- Kuwait
- Male
- Metabolism, Inborn Errors
- Mutation
- Pedigree
- Point Mutation