| 1 | HND, SLC6A19 |
| Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | |
| Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. | |
| Pediatr Neurol 42(5):369-71. Review. 2010 | |
| 2 | HND, SLC6A19 |
| Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. | |
| Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A. | |
| Nat Genet 36(9):999-1002. Epub 2004 Aug 01. 2004 | |
| 3 | SLC6A19, HND |
| Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. | |
| Seow HF, Broer S, Broer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE. | |
| Nat Genet 36(9):1003-7. Epub 2004 Aug 01. 2004 | |
| 4 | HND |
| Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. | |
| Nozaki J, Dakeishi M, Ohura T, Inoue K, Manabe M, Wada Y, Koizumi A. | |
| Biochem Biophys Res Commun 284(2):255-60. 2001 | |