Article
An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.
Psychiatric genetics - 1 Aug 2013
Saito Atsushi, Kuratomi Go, Ito Chihiro, Matsuoka Hiroo, Suzuki Tamio, Ozeki Yuji, Watanabe Takashi, Fujii Kumiko, Shimoda Kazutaka, Fukushima Yasutsugu, Inukai Toshihiko, Ohmori Kenichi, Akiyama Kazufumi
Abstract excerpt
OBJECTIVE: We encountered two Japanese siblings who had Hermansky-Pudlak syndrome (HPS) and major mental disorders (schizophrenia and major depression) as well. As it is known that HPS is caused by a local mutation in one of the human genes, named HPS1 to HPS8 and PLDN (HPS9), encoding subunit proteins involved in endosomal trafficking pathways, here, we report the mutation causing the siblings disease and a...
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