Publication

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, Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet36(9):999-1002 2004
PubMed ID: 15286787

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM05003Male18 YR814probandHARTNUP DISORDER
GM05004Male15 YR814brotherHARTNUP DISORDER