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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: Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni
フォーマット: Artigo
言語:Inglês
出版事項: Discover STM Publishing Ltd 2021-12-01
シリーズ:Journal of Biochemical and Clinical Genetics
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オンライン・アクセス:http://www.ejmanager.com/fulltextpdf.php?mno=53032
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