Ontology highlight
ABSTRACT:
SUBMITTER: Morrow EM
PROVIDER: S-EPMC2631562 | biostudies-literature | 2008 Dec
REPOSITORIES: biostudies-literature
Morrow Eric M EM Kane Anna A Goff Donald C DC Walsh Christopher A CA
Schizophrenia research 20080920 2-3
The P21-activated kinase PAK3 is critical for cognitive development and truncating mutations cause non-syndromic mental retardation (MR). Missense mutations are also associated with psychotic disorders, most commonly with schizophrenia involving premorbid MR, namely "pfropfschizophrenie". We set out to measure the frequency of sequence variants in PAK3 in schizophrenia without premorbid MR. We conducted complete gene reseqeuncing of all coding exons and exon-intron boundaries in patients with sc ...[more]