Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

@article{Hglund2001IdentificationOS,
  title={Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea},
  author={P. H{\"o}glund and M. Sormaala and S. Haila and J. Socha and U. Rajaram and W. Scheurlen and M. Sinaasappel and H. de Jonge and C. Holmberg and H. Yoshikawa and J. Kere},
  journal={Human Mutation},
  year={2001},
  volume={18}
}
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 its genomic structure, altogether three founder and 17 private mutations have been… Expand
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