由于常见突变的杂合性以及一个导致中链酰基辅酶A脱氢酶（MCAD）mRNA水平低的等位基因而引起的MCAD缺乏症。 - Suppr

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超能文献

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.

作者信息

Andresen B S, Bross P, Knudsen I, Winter V, Kølvraa S, Bolund L, Gregersen N

机构信息

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

出版信息

J Inherit Metab Dis. 1994;17(3):275-8. doi: 10.1007/BF00711806.

DOI:10.1007/BF00711806

PMID:7807932

Abstract

摘要

相似文献

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.由于常见突变的杂合性以及一个导致中链酰基辅酶A脱氢酶（MCAD）mRNA水平低的等位基因而引起的MCAD缺乏症。

J Inherit Metab Dis. 1994;17(3):275-8. doi: 10.1007/BF00711806.

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症患者常见突变的鉴定。

Biochem Biophys Res Commun. 1990 Aug 31;171(1):498-505. doi: 10.1016/0006-291x(90)91421-n.

Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.荷兰最常见的中链酰基辅酶A脱氢酶（MCAD）缺乏症突变（G985A）携带者的患病率。

Hum Genet. 1996 Jul;98(1):1-2. doi: 10.1007/s004390050149.

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).中链酰基辅酶A脱氢酶（MCAD）基因中的一种罕见疾病相关突变改变了一个保守的精氨酸，此前已证明该精氨酸在短链酰基辅酶A脱氢酶（SCAD）中具有功能重要性。

Am J Hum Genet. 1993 Sep;53(3):730-9.

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?复合杂合子患者中链酰基辅酶A脱氢酶（MCAD）缺乏症的分子基础：基因型与表型之间是否存在关联？

Hum Mol Genet. 1997 May;6(5):695-707. doi: 10.1093/hmg/6.5.695.

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.导致中链酰基辅酶A脱氢酶缺乏症的最常见突变与该基因区域的一种特定单倍型密切相关。

Hum Genet. 1991 Aug;87(4):425-8. doi: 10.1007/BF00197161.

Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death.导致儿童猝死的遗传性中链酰基辅酶A脱氢酶缺乏症的分子基础。

J Inherit Metab Dis. 1992;15(2):171-80. doi: 10.1007/BF01799626.

Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症中的免疫反应性酶蛋白

Biochem Med Metab Biol. 1991 Dec;46(3):373-9. doi: 10.1016/0885-4505(91)90085-y.

Prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden.瑞典中链酰基辅酶A脱氢酶（MCAD）基因中985A>G突变的患病率。

Scand J Clin Lab Invest. 1999 Jul;59(4):289-91. doi: 10.1080/00365519950185652.

Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.中链酰基辅酶A脱氢酶（MCAD）缺乏症新突变的鉴定。

Am J Hum Genet. 1992 Jan;50(1):229-33.

引用本文的文献

Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.一种具有位于活性位点的疾病相关突变的变异型人线粒体中链酰基辅酶A脱氢酶的生化特性

Biochem J. 1999 Jan 15;337 ( Pt 2)(Pt 2):225-30.

本文引用的文献

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.

Hum Mol Genet. 1993 Apr;2(4):488. doi: 10.1093/hmg/2.4.488.

Am J Hum Genet. 1993 Sep;53(3):730-9.

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.中链酰基辅酶A脱氢酶（MCAD）缺乏症的分子特征：MCAD基因中赖氨酸329突变为谷氨酸的鉴定，以及无活性突变酶蛋白在大肠杆菌中的表达。

Hum Genet. 1991 Apr;86(6):545-51. doi: 10.1007/BF00201539.

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

Clin Chim Acta. 1991 Nov 9;203(1):23-34. doi: 10.1016/0009-8981(91)90153-4.

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.对55例中链酰基辅酶A脱氢酶（MCAD）缺乏症患者中一种常见突变（985A到G转换）的分子调查以及五个罕见突变的鉴定。

Am J Hum Genet. 1991 Dec;49(6):1280-91.

Hum Genet. 1991 Aug;87(4):425-8. doi: 10.1007/BF00197161.

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.中链酰基辅酶A脱氢酶（MCAD）基因突变。

Hum Mutat. 1992;1(4):271-9. doi: 10.1002/humu.1380010402.

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