MISC

2004年9月

Novel PINK1 mutations in early-onset parkinsonism

ANNALS OF NEUROLOGY
  • Y Hatano
  • YZ Li
  • K Sato
  • S Asakawa
  • Y Yamamura
  • H Tomiyama
  • H Yoshino
  • M Asahina
  • S Kobayashi
  • S Hassin-Baer
  • CS Lu
  • AR Ng
  • RL Rosales
  • N Shimizu
  • T Toda
  • Y Mizuno
  • N Hattori
  • 全て表示

56
3
開始ページ
424
終了ページ
427
記述言語
英語
掲載種別
DOI
10.1002/ana.20251
出版者・発行元
WILEY-LISS

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.

リンク情報
DOI
https://doi.org/10.1002/ana.20251
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000223687400015&DestApp=WOS_CPL
ID情報
  • DOI : 10.1002/ana.20251
  • ISSN : 0364-5134
  • Web of Science ID : WOS:000223687400015

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