长链3-羟酰基辅酶A脱氢酶缺乏症：G1528C突变的高频率，与临床表型无明显相关性。 - Suppr

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超能文献

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

作者信息

Ijlst L, Uskikubo S, Kamijo T, Hashimoto T, Ruiter J P, de Klerk J B, Wanders R J

机构信息

Academic Medical Centre, University Hospital Amsterdam, Department of Pediatric, The Netherlands.

出版信息

J Inherit Metab Dis. 1995;18(2):241-4. doi: 10.1007/BF00711778.

DOI:10.1007/BF00711778

PMID:7564258

Abstract

摘要

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.长链3-羟酰基辅酶A脱氢酶缺乏症：G1528C突变的高频率，与临床表型无明显相关性。

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C).

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Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes.大鼠线粒体脂肪酸β-氧化多酶复合体亚基的cDNA分子克隆。与其他线粒体和过氧化物酶体β-氧化酶的结构和功能关系。

J Biol Chem. 1993 Dec 15;268(35):26452-60.

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.长链3-羟酰基辅酶A脱氢酶缺乏症的分子基础：线粒体三功能蛋白α亚基主要致病突变的鉴定

Biochim Biophys Acta. 1994 Dec 8;1215(3):347-50. doi: 10.1016/0005-2760(94)90064-7.

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.长链3-羟基酰基辅酶A脱氢酶缺乏症：幼儿期致死性肌病和心肌病的一个病因。

Pediatr Res. 1990 Dec;28(6):657-62. doi: 10.1203/00006450-199012000-00023.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

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Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

Biochem Biophys Res Commun. 1992 Mar 16;183(2):443-8. doi: 10.1016/0006-291x(92)90501-b.

Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.人类三功能蛋白缺乏症：一种线粒体脂肪酸β氧化的新疾病。

Biochem Biophys Res Commun. 1992 Nov 16;188(3):1139-45. doi: 10.1016/0006-291x(92)91350-y.

Combined enzyme defect of mitochondrial fatty acid oxidation.线粒体脂肪酸氧化联合酶缺陷

J Clin Invest. 1992 Oct;90(4):1219-25. doi: 10.1172/JCI115983.

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