Proteolytic Processing of the γ-Subunit Is Associated with the Failure to Form GlcNAc-1-phosphotransferase Complexes and Mannose 6-Phosphate Residues on Lysosomal Enzymes in Human...

Por Pohl, Sandra, Tiede, Stephan, Marschner, Katrin, Encarnação, Marisa, Castrichini, Monica, Kollmann, Katrin, Muschol, Nicole, Ullrich, Kurt, Müller-Loennies, Sven, Braulke, Thomas
Publicado em 2010

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Por Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, Barbara, Grangl, Gernot, Uhrig, Sabine, Mundlos, Stefan, Horn, Denise
Publicado no Eur J Hum Genet (2015)

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Por Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, Barbara, Grangl, Gernot, Uhrig, Sabine, Mundlos, Stefan, Horn, Denise
Publicado no Eur J Hum Genet (2015)