@article{b6c66ac39e384507be32837401dced37,
title = "Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease",
abstract = "Recently, a missense mutation (Ile93Met) of exon 4 in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene was identified in a German family with autosomal dominant Parkinson's disease (ADPD). To determine whether this mutation is responsible for familial Parkinson's disease (PD), we sequenced the entire coding region of UCH-L1 gene in nine families with ADPD. No mutations in this gene were found in any of the families studied. We conclude that the Ile93Met mutation in UCH-L1 gene is a very rare cause of familial PD. Copyright (C) 2000 Elsevier Science Ltd.",
keywords = "Autosomal dominant Parkinson's disease, Genetics, Parkinson's disease, Ubiquitin carboxy-terminal hydrolase L1",
author = "J. Zhang and N. Hattori and N. Giladi and Y. Mizuno",
note = "Funding Information: This study was in part supported by a Grant-in-Aid for Scientific Research on Neurodegenerative Disorders from the Ministry of Health and Welfare, Japan, a Grant-in-Aid for Scientific Research from the Ministry of Education, Science, and Culture, Japan, and a “Center of Excellence” Grant from the National Parkinson Foundation, Miami, FL.",
year = "2000",
month = oct,
doi = "10.1016/S1353-8020(00)00022-5",
language = "אנגלית",
volume = "6",
pages = "199--200",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier Ltd.",
number = "4",
}