Initial insight into the function of the lysosomal 66.3 kDa protein from mouse by means of X-ray crystallography

Por Lakomek, Kristina, Dickmanns, Achim, Kettwig, Matthias, Urlaub, Henning, Ficner, Ralf, Lübke, Torben
Publicado em 2009

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Por Kettwig, Matthias, Elpeleg, Orly, Wegener, Eike, Dreha-Kulaczewski, Steffi, Henneke, Marco, Gärtner, Jutta, Huppke, Peter
Publicado no BMC Neurol (2016)