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Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs
http://hdl.handle.net/2297/16790
http://hdl.handle.net/2297/16790f48a0fd2-fef6-4846-823b-5c262ed01fb2
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
CA-PR-YOSHIOKA-K-1706.pdf (1.0 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2017-10-05 | |||||
| タイトル | ||||||
| タイトル | Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Furuya, Hirokazu
× Furuya, Hirokazu× Yoshioka, Katsuji× Sasaki, Hiroyuki× Sakaki, Yoshiyuki× Nakazato, Masamitsu× Matsuo, Hisayuki× Nakadai, Akira× Ikeda, Shu-ichi× Yanagisawa, Nobuo |
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| 提供者所属 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 金沢大学がん研究所がん分子細胞制御 | |||||
| 書誌情報 |
Journal of Clinical Investigation 巻 80, 号 6, p. 1706-1711, 発行日 1987-12-01 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0021-9738 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00695520 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1172/JCI113261. | |||||
| 出版者 | ||||||
| 出版者 | American Society for Clinical Investigation | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | A Japanese family with atypical type I familial amyloidotic polyneuropathy (FAP) in Iiyama, Japan, was studied. Most of the family members have dysfunctions of the central nervous system, in addition to typical symptoms of type I FAP. The transthyretin (TTR, also called prealbumin) gene of the atypical FAP (FAP-IY) was analyzed with recombinant DNA techniques and a RIA method. FAP-IY was found to have the mutation responsible for the methionine-for-valine substitution at position 30 of TTR, as in the case of typical type I FAP. However, analysis of DNA polymorphisms in the TTR locus showed that FAP-IY has a genetic background differing from that of the typical type I FAP. These observations lead to the consideration that a genetic factor(s) involved in the dysfunction of the central nervous system may locate in a chromosome region in close proximity to the TTR gene. | |||||
| 権利 | ||||||
| 権利情報 | Copyright © 1987, The American Society for Clinical Investigation | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 関連URI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | http://dx.doi.org/10.1172/JCI113261. | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=442443&blobtype=pdf | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.jci.org/articles/view/113261/pdf | |||||
