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日本人Wilson病のハプロタイプ解析
https://doi.org/10.15114/smj.65.533
https://doi.org/10.15114/smj.65.533bb0402e1-01de-4c82-ba29-b795948ff999
名前 / ファイル | ライセンス | アクション |
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n0036472X656533.pdf (1.3 MB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2019-07-31 | |||||
タイトル | ||||||
言語 | ja | |||||
タイトル | 日本人Wilson病のハプロタイプ解析 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Haplotype Studies in Japanese Patients with Wilson Disease | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Wilson disease | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Haplotype | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Short tandem repeat | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Family analysis | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Presymptomatic diagnosis | |||||
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 | departmental bulletin paper | |||||
ID登録 | ||||||
ID登録 | 10.15114/smj.65.533 | |||||
ID登録タイプ | JaLC | |||||
著者 |
山口, 昭弘
× 山口, 昭弘× 松浦, 晃洋× 荒島, 真一郎 |
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著者別名 | ||||||
姓名 | Yamaguchi, Akihiro | |||||
著者別名 | ||||||
姓名 | Matsuura, Akihiro | |||||
著者別名 | ||||||
姓名 | Arashima, Shinichiro | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Chromosomal haplotypes of six Japanese families with Wilson Disease (WND) wereinvestigated with short tandem repeat (STR) polymorphisms at loci; D13S314, D13S301 and D13S316. These markers had previously been established in northern European families and are all highly polymorphic and informative for the presymptomatic diagnosis for Japanese WND families as well. No statistically significant deviations in allele distributions between the normal and WND chromosomes were observed for either marker locus. However, two common haplotypes (combination of marker loci), D13S314-D13S301-D13S316: 11-2-7 and 11-3-7, were each more frequently observed in 4 out of 12 WND chromosomes. We then examined partial sequences of ATP7B (WND) gene where 41 disease-causing mutations were previously identified mainly in European populations. Two missense mutations, R779L and N1271S, were respectively identified in 1 out of 12 and 2 out of 12 Japanese WND chromosomes. | |||||
書誌情報 |
札幌医学雑誌 = The Sapporo medical journal en : The Sapporo medical journal 巻 65, 号 6, p. 533-541, 発行日 1996-12-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0036-472X | |||||
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 | |||||
出版者 | ||||||
出版者 | 札幌医科大学医学部 |