ACADS基因中的氨基酸多态性（甘氨酸209丝氨酸） - Suppr

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超能文献

Amino acid polymorphism (Gly209Ser) in the ACADS gene.

作者信息

Kristensen M J, Kmoch S, Bross P, Andresen B S, Gregersen N

机构信息

Centre for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Denmark.

出版信息

Hum Mol Genet. 1994 Sep;3(9):1711. doi: 10.1093/hmg/3.9.1711-a.

DOI:10.1093/hmg/3.9.1711-a

PMID:7833941

Abstract

摘要

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Amino acid polymorphism (Gly209Ser) in the ACADS gene.ACADS基因中的氨基酸多态性（甘氨酸209丝氨酸）

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引用本文的文献

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.短链酰基辅酶 A 脱氢酶缺乏症：从基因到细胞病理学及可能的发病机制。

J Inherit Metab Dis. 2017 Sep;40(5):641-655. doi: 10.1007/s10545-017-0047-1. Epub 2017 May 17.

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.短链酰基辅酶 A 脱氢酶缺乏症的临床方面。

J Inherit Metab Dis. 2010 Oct;33(5):507-11. doi: 10.1007/s10545-010-9080-z. Epub 2010 Apr 29.

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.114例短链酰基辅酶A脱氢酶（SCAD）缺乏症患者的ACADS基因变异谱以错义变异为主，这些变异导致细胞水平上的蛋白质错误折叠。

Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4.

Structural organization of the human short-chain acyl-CoA dehydrogenase gene.人类短链酰基辅酶A脱氢酶基因的结构组织

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Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase.一名患有短链酰基辅酶A脱氢酶SER209变异型的患者出现核黄素反应性癫痫。

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