Ontology highlight
ABSTRACT:
SUBMITTER: Rajput A
PROVIDER: S-EPMC4795043 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Rajput Alex A Ross Jay P JP Bernales Cecily Q CQ Rayaprolu Sruti S Soto-Ortolaza Alexandra I AI Ross Owen A OA van Gerpen Jay J Uitti Ryan J RJ Wszolek Zbigniew K ZK Rajput Ali H AH Vilariño-Güell Carles C
European journal of human genetics : EJHG 20140813 6
Exome-sequencing analyses have identified vacuolar protein sorting 35 homolog (VPS35) and DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13) harboring disease-causing variants for Parkinson disease (PD). Owing to the suggested clinical, pathological and genetic overlap between PD and essential tremor (ET) we assessed the presence of two VPS35 and DNAJC13 disease-causing variants in ET patients. TaqMan probes were used to genotype VPS35 c.1858G>A (p.(D620N)) (rs188286943) and DNAJC13 c.2564A> ...[more]