线粒体乙酰乙酰辅酶A硫解酶基因：在一名患有β-酮硫解酶缺乏症的白种人患者中发现一个新的68bp缺失，该缺失涉及内含子7的3'剪接位点，导致外显子8跳跃。 - Suppr | 超能文献

Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.

作者信息

Fukao T, Song X Q, Yamaguchi S, Orii T, Wanders R J, Poll-The B T, Hashimoto T

机构信息

Department of Pediatrics, Gifu University School of Medicine, Japan.

出版信息

Hum Mutat. 1995;5(1):94-6. doi: 10.1002/humu.1380050113.

DOI:10.1002/humu.1380050113

Abstract

摘要

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Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.线粒体乙酰乙酰辅酶A硫解酶基因：在一名患有β-酮硫解酶缺乏症的白种人患者中发现一个新的68bp缺失，该缺失涉及内含子7的3'剪接位点，导致外显子8跳跃。

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引用本文的文献

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Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.与线粒体乙酰乙酰辅酶 A 硫解酶（T2）缺乏相关的 ACAT1 变体的突变更新。

Hum Mutat. 2019 Oct;40(10):1641-1663. doi: 10.1002/humu.23831. Epub 2019 Jul 3.

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Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.对β-酮硫解酶（线粒体乙酰乙酰辅酶 A 硫解酶，T2）缺乏症的认识的最新进展。

J Hum Genet. 2019 Feb;64(2):99-111. doi: 10.1038/s10038-018-0524-x. Epub 2018 Nov 5.