| Literature DB >> 15349870 |
Yasuko Hatano1, Yuanzhe Li, Kenichi Sato, Shuichi Asakawa, Yasuhiro Yamamura, Hiroyuki Tomiyama, Hiroyo Yoshino, Masato Asahina, Susumu Kobayashi, Sharon Hassin-Baer, Chin-Song Lu, Arlene R Ng, Raymond L Rosales, Nobuyoshi Shimizu, Tatsushi Toda, Yoshikuni Mizuno, Nobutaka Hattori.
Abstract
PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.Entities:
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Year: 2004 PMID： 15349870 DOI： 10.1002/ana.20251
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422