A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40℃
Bibliographic Information
- Other Title
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- A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern even at 40ドC
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Abstract
コレクション : 国立国会図書館デジタルコレクション > デジタル化資料 > 雑誌
Journal
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- Journal of human genetics / Japan Society of Human Genetics
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Journal of human genetics / Japan Society of Human Genetics 52 (7), 599-606, 2007
Tokyo : Springer Nature
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Keywords
Details 詳細情報について
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- CRID
- 1521136280689346048
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- NII Article ID
- 40015454169
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- NII Book ID
- AA11206160
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- ISSN
- 14345161
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- NDL BIB ID
- 8795061
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- Text Lang
- en
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- NDL Source Classification
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- ZS16(科学技術--医学--人類遺伝学)
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- Data Source
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- NDL
- CiNii Articles