Báo cáo khóa học: Genetic defects in fatty acid b-oxidation and acyl-CoA dehydrogenases Molecular pathogenesis and genotype–phenotype relationships
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Mitochondrial fatty acid oxidation deficiencies are due togenetic defects in enzymes of fatty acidb-oxidation andtransport proteins.Genetic defects have been identified inmost of the genes where nearly all types of sequence vari-ations (mutation types) have beenassociatedwithdisease.Inthis paper, we will discuss the effects of the various types ofsequence variations encountered and review current know-ledge regarding the genotype–phenotype relationship, espe-cially in patients with acyl-CoA dehydrogenase deficiencieswhere sufficient material exists for a meaningful discussion....
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Báo cáo khóa học: Genetic defects in fatty acid b-oxidation and acyl-CoA dehydrogenases Molecular pathogenesis and genotype–phenotype relationships
Nội dung trích xuất từ tài liệu:
Báo cáo khóa học: Genetic defects in fatty acid b-oxidation and acyl-CoA dehydrogenases Molecular pathogenesis and genotype–phenotype relationships
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