Article
PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2011
Ghazavi Farzaneh, Fazlali Zeinab, Banihosseini Setareh Sadat, Hosseini Sayed-Rzgar, Kazemi Mohammad Hossein, Shojaee Seyedmehdi, Parsa Khosro, Sadeghi Homa, Sina Farzad, Rohani Mohammad, Shahidi Gholam-Ali, Ghaemi Nasser, Ronaghi Mostafa, Elahi Elahe
Abstract excerpt
We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi-quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription-polymerase chain reaction (RT-PCR). Nine different PRKN mutations were found....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.