Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

@article{Kleta2004MutationsIS,
  title={Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder},
  author={R. Kleta and E. Romeo and Z. Ristic and T. Ohura and C. Stuart and M. Arcos-Burgos and M. Dave and C. Wagner and S. Camargo and S. Inoue and N. Matsuura and A. Helip-Wooley and D. Bockenhauer and R. Warth and I. Bernardini and G. Visser and T. Eggermann and P. Lee and A. Chairoungdua and Promsuk Jutabha and E. Babu and S. Nilwarangkoon and N. Anzai and Y. Kanai and F. Verrey and W. Gahl and A. Koizumi},
  journal={Nature Genetics},
  year={2004},
  volume={36},
  pages={999-1002}
}
Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra (rashes), cerebellar ataxia and psychosis. Using homozygosity mapping in the original family in whom Hartnup disorder was discovered, we confirmed that the critical region for one causative gene was located on… Expand
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