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Mutations in medium chain acyl-CoA dehydrogenase deficiency.

出版信息

Lancet. 1990 Sep 22;336(8717):748-9.

PMID:1975917
Abstract
摘要

相似文献

1
Mutations in medium chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症中的突变。
Lancet. 1990 Sep 22;336(8717):748-9.
2
Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay.采用寡核苷酸连接分析法对中链酰基辅酶A脱氢酶缺乏症进行分子诊断。
Clin Chem. 1998 Jan;44(1):10-1.
3
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.
4
The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.中链酰基辅酶A脱氢酶缺乏症的分子基础：985A→G转变的研究与演变，以及中链酰基辅酶A脱氢酶基因内五种罕见突变类型的鉴定。
Prog Clin Biol Res. 1992;375:425-40.
5
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.
6
Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症患者的分子病变
Lancet. 1990 Jun 30;335(8705):1589. doi: 10.1016/0140-6736(90)91413-5.
7
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.在法国，大多数中链酰基辅酶A脱氢酶缺乏症病例未被检测出来。
Hum Genet. 1996 Mar;97(3):367-8. doi: 10.1007/BF02185775.
8
Molecular analysis of medium chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症的分子分析
Prog Clin Biol Res. 1990;321:609-23.
9
[Medium chain acyl-CoA dehydrogenase deficiency].[中链酰基辅酶A脱氢酶缺乏症]
Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):560-3.
10
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.

引用本文的文献

1
Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis. 1993;16(2):392-8. doi: 10.1007/BF00710286.
2
Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.定义与人类中链酰基辅酶A脱氢酶（MCAD）缺乏症常见突变相关单倍型的三个限制性片段长度多态性（RFLP）出现在Alu重复序列中。
Am J Hum Genet. 1993 Jun;52(6):1111-21.
3
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.
J Inherit Metab Dis. 1994;17(2):169-84. doi: 10.1007/BF00711614.
4
Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in plasma.通过检测血浆中顺式-4-癸烯酸快速诊断中链酰基辅酶A脱氢酶缺乏症
J Inherit Metab Dis. 1991;14(5):661-7. doi: 10.1007/BF01799930.
5
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.
6
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.
7
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.
8
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.在日本患者中，几乎所有导致腺嘌呤磷酸核糖转移酶缺乏的缺陷等位基因仅由三种突变引起。
J Clin Invest. 1992 Jul;90(1):130-5. doi: 10.1172/JCI115825.