Saudi patient with peroxisome biogenesis disorder with novel variant: a case report
Background: Peroxisomes are cells' organelles that responsible for the metabolism of branched-chain and very-long-chain fatty acids (VLCFA), polyamines, and amino acids. Peroxisomal biogenesis factor 6 (PEX6) is one of the factors required for the import of the proteins into peroxisomes. Mutati...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Discover STM Publishing Ltd
2021-12-01
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| シリーズ: | Journal of Biochemical and Clinical Genetics |
| 主題: | |
| オンライン・アクセス: | http://www.ejmanager.com/fulltextpdf.php?mno=53032 |
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