Article
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.
Human mutation - 1 Sept 2001
Höglund P, Sormaala M, Haila S, Socha J, Rajaram U, Scheurlen W, Sinaasappel M, de Jonge H, Holmberg C, Yoshikawa H, Kere J
Abstract excerpt
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, member 3 gene (SLC26A3, previously known as CLD or DRA) are responsible for the disease. Since the identification of the SLC26A3 gene and the determination of...
Topics
- Antiporters
- Base Sequence
- Carrier Proteins
- Chloride-Bicarbonate Antiporters
- Chlorides
- Codon, Nonsense
- DNA
- DNA Mutational Analysis
- Diarrhea
- Family Health