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Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene
http://hdl.handle.net/10069/38368
http://hdl.handle.net/10069/383681066bf40-db00-4576-a9bb-e597b5681c62
名前 / ファイル | ライセンス | アクション |
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IntMed57_1611.pdf (461.3 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2018-07-12 | |||||
タイトル | ||||||
タイトル | Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cerebrotendinous xanthomatosis (CTX) | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | sterol 27-hydroxylase (CYP27A1) | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cholestanol | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | norcholic acid | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | chenodeoxycholic acid (CDCA) | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cholesterol efflux | |||||
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 |
Sasamura, Akari
× Sasamura, Akari× Akazawa, Satoru× Haraguchi, Ai× Horie, Ichiro× Ando, Takao× Abiru, Norio× Takei, Hajime× Nittono, Hiroshi× Une, Mizuho× Kurosawa, Takao× Murai, Tsuyoshi× Naruse, Hiromu× Nakayama, Tomohiro× Kotani, Kazuhiko× Remaley, Alan T.× Kawakami, Atsushi |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. CTX is caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. We herein report a 50-year-old Japanese woman with late-onset CTX who had no relevant symptoms before the development of bilateral Achilles tendon xanthomas in middle age. A genetic analysis revealed a compound heterozygous mutation in the CYP27A1 gene with a previously known missense mutation (NM_000784.3:c.1421 G>A) and a novel frame shift mutation of NM_000784.3:c.1342_1343insCACC. | |||||
書誌情報 |
Internal Medicine 巻 57, 号 11, p. 1611-1616, 発行日 2018-06-01 |
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出版者 | ||||||
出版者 | 日本内科学会 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 09182918 | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 13497235 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.2169/internalmedicine.0120-17 | |||||
権利 | ||||||
権利情報 | c 2018 by The Japanese Society of Internal Medicine | |||||
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 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Internal Medicine, 57(11), pp.1611-1616; 2018 |