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家族性高コレステロール血症における構造多型を含めた遺伝的背景の網羅的解明と治療

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家族性高コレステロール血症における構造多型を含めた遺伝的背景の網羅的解明と治療

Material type
文書・図像類
Author
野口, 徹ほか
Publisher
-
Publication date
2010-05-14
Material Format
Digital
Capacity, size, etc.
-
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Note (General)：

金沢大学医薬保健研究域医学系従来法では家族性高コレステロール(FH)症例の約4割で遺伝子変異が未検出である.そこで,大規模欠失・重複変異(CNV)を簡便に検出可能なMLPA法を新たに導入し,FHと臨床診断された518例の病因遺伝子変異を検索した.MLPA法導入で新たに8種のCNVが検出され,本施設に...

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https://kaken.nii.ac.jp/ja/search/?kw=40456421

https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-20790642/

https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-20790642/20790642seika/

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  • Kanazawa University Repository for Academic Resources

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Digital

Material Type
文書・図像類
Title
家族性高コレステロール血症における構造多型を含めた遺伝的背景の網羅的解明と治療
Author/Editor
野口, 徹
Noguchi, Tohru
Author Heading
野口, 徹
Noguchi, Tohru
Publication Date
2010-05-14
Publication Date (W3CDTF)
2010-05-14
Alternative Title
Analysis of the genetic backgrounds of familial hypercholesterolemia to achieve the effective therapy.
Periodical title
平成21(2009)年度 科学研究費補助金 若手研究(B) 研究成果報告書 = 2009 Fiscal Year Final Research Report
No. or year of volume/issue
2008 – 2009
Volume
2008 – 2009