德国北部婴儿猝死受害者及健康新生儿中中链酰基辅酶A脱氢酶缺乏症G985等位基因的患病率。 - Suppr

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超能文献

The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.

作者信息

Santer R, Gregersen N, Tanaka K, Hinck-Kneip C, Krawinkel M, Schaub J

出版信息

Eur J Pediatr. 1995 Jun;154(6):497. doi: 10.1007/BF02029364.

DOI:10.1007/BF02029364

PMID:7671949

Abstract

摘要

相似文献

The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.德国北部婴儿猝死受害者及健康新生儿中中链酰基辅酶A脱氢酶缺乏症G985等位基因的患病率。

Eur J Pediatr. 1995 Jun;154(6):497. doi: 10.1007/BF02029364.

Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).中链酰基辅酶A脱氢酶（MCAD）基因常见G985突变在苏格兰的发生频率及MCAD缺乏症在婴儿猝死综合征（SIDS）中的作用。

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The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome.婴儿猝死综合征中编码中链酰基辅酶A脱氢酶的基因致病点突变的频率。

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The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy.

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Is the medium-chain acyl-CoA dehydrogenase G985 mutation involved in sudden infant death in Norway?

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Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

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[Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death].[诺曼底地区中链酰基辅酶A脱氢酶（MCAD）基因A985至G突变的筛查。评估MCAD缺乏症在婴儿猝死中的作用]

C R Seances Soc Biol Fil. 1995;189(2):295-301.

The frequency of medium-chain acyl-CoA dehydrogenase G985 mutation in the Hungarian population.

Eur J Pediatr. 1996 Mar;155(3):256. doi: 10.1007/BF01953952.

Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis.

Pediatrics. 2000 May;105(5):1175-6. doi: 10.1542/peds.105.5.1175.

Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.婴儿猝死综合征中中链酰基辅酶A脱氢酶缺乏症G-985突变的发生率

Pediatr Res. 1992 Apr;31(4 Pt 1):305-7. doi: 10.1203/00006450-199204000-00001.

引用本文的文献

Gene variants predisposing to SIDS: current knowledge.导致婴儿猝死综合征的基因变异：当前认知

Forensic Sci Med Pathol. 2011 Mar;7(1):26-36. doi: 10.1007/s12024-010-9182-9. Epub 2010 Jul 11.

本文引用的文献

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.中链酰基辅酶A脱氢酶（MCAD）缺乏症：常见突变G985（K304E）受到来自西北欧的强烈奠基者效应影响。

Hum Hered. 1993 Nov-Dec;43(6):342-50. doi: 10.1159/000154157.

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.

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