抄録
<jats:title>Abstract</jats:title><jats:p><jats:italic>PINK1</jats:italic> 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 <jats:italic>PINK1</jats:italic> may be the second most common causative gene next to <jats:italic>parkin</jats:italic> in parkinsonism with the recessive mode of inheritance. Ann Neurol 2004;56:424–427</jats:p>
収録刊行物
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- Annals of Neurology
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Annals of Neurology 56 (3), 424-427, 2004-08-31
Wiley
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詳細情報
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- CRID
- 1363951793742075520
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- NII論文ID
- 30008830715
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- ISSN
- 15318249
- 03645134
- http://id.crossref.org/issn/03645134
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- データソース種別
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- Crossref
- CiNii Articles