Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
American Journal Of Human Genetics
Hrebícek, Martin M; Mrázová, Lenka L; Seyrantepe, Volkan V; Durand, Stéphanie S; Roslin, Nicole M NM; Nosková, Lenka L; Hartmannová, Hana H; Ivánek, Robert R; Cízkova, Alena A; Poupetová, Helena H; Sikora, Jakub J; Urinovská, Jana J; Stranecký, Viktor V; Zeman, Jirí J; Lepage, Pierre P; Roquis, David D; Verner, Andrei A; Ausseil, Jérome J; Beesley, Clare E CE; Maire, Irène I; Poorthuis, Ben J H M BJ; van de Kamp, Jiddeke J; van Diggelen, Otto P OP; Wevers, Ron A RA; Hudson, Thomas J TJ; Fujiwara, T Mary TM; Majewski, Jacek J; Morgan, Kenneth K; Kmoch, Stanislav S; Pshezhetsky, Alexey V AV