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Genetics of population isolates.
Arcos-Burgos M, Muenke M. Arcos-Burgos M, et al. Clin Genet. 2002 Apr;61(4):233-47. doi: 10.1034/j.1399-0004.2002.610401.x. Clin Genet. 2002. PMID: 12030885 Review.
Familial Alzheimer's Disease and Recessive Modifiers.
Vélez JI, Lopera F, Silva CT, Villegas A, Espinosa LG, Vidal OM, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Mol Neurobiol. 2020 Feb;57(2):1035-1043. doi: 10.1007/s12035-019-01798-0. Epub 2019 Oct 29. Mol Neurobiol. 2020. PMID: 31664702 Free PMC article.
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. Kleta R, et al. Nat Genet. 2004 Sep;36(9):999-1002. doi: 10.1038/ng1405. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286787
145 results