长链 3-羟酰基辅酶 A 脱氢酶缺乏症：一种鉴定基因组 DNA 中 G1528C 突变的新方法，该突变显示出高频率（约 90%），并鉴定出一种新突变（T2198C）。 - Suppr

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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).

作者信息

Ijlst L, Ruiter J P, Vreijling J, Wanders R J

机构信息

Department of Clinical Chemistry, University Hospital Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1996;19(2):165-8. doi: 10.1007/BF01799420.

DOI:10.1007/BF01799420

PMID:8739956

Abstract

摘要

相似文献

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).长链 3-羟酰基辅酶 A 脱氢酶缺乏症：一种鉴定基因组 DNA 中 G1528C 突变的新方法，该突变显示出高频率（约 90%），并鉴定出一种新突变（T2198C）。

J Inherit Metab Dis. 1996;19(2):165-8. doi: 10.1007/BF01799420.

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。

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

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.长链 3-羟酰基辅酶 A 脱氢酶缺乏症的分子基础：两个新突变的鉴定。

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Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.长链3-羟基酰基辅酶A脱氢酶缺乏症中的常见错义突变G1528C。突变蛋白的表征与表达、基因组DNA的突变分析以及线粒体三功能蛋白α亚基基因的染色体定位

J Clin Invest. 1996 Aug 15;98(4):1028-33. doi: 10.1172/JCI118863.

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

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Improved detection of the G1528C mutation in LCHAD deficiency.

Biochem Mol Med. 1996 Jun;58(1):46-51. doi: 10.1006/bmme.1996.0031.

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.与妊娠合并急性脂肪肝相关的小儿长链3-羟酰基辅酶A脱氢酶缺乏症的分子基础。

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Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.一名因G1528C突变导致长链3-羟酰基辅酶A脱氢酶缺乏症患者的甲状旁腺功能减退症。

J Pediatr. 1997 Nov;131(5):766-8. doi: 10.1016/s0022-3476(97)70111-2.

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?脂肪酸氧化障碍与溶血、肝酶升高、血小板减少（HELLP）综合征之间缺乏相关性？

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Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.对合并肝脏疾病的妊娠进行前瞻性筛查，以检测小儿线粒体三功能蛋白缺陷。

JAMA. 2002 Nov 6;288(17):2163-6. doi: 10.1001/jama.288.17.2163.

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Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.线粒体三功能蛋白/长链3-羟基酰基辅酶A脱氢酶缺乏症患者的诊断、治疗及临床结局

JIMD Rep. 2017;31:63-71. doi: 10.1007/8904_2016_558. Epub 2016 Apr 28.

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.爱沙尼亚长链3-羟基酰基辅酶A脱氢酶缺乏症的患病率

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Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes.通过卵母细胞极体分析对单基因疾病进行植入前诊断的准确性。

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本文引用的文献

Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene.编码78kDa胃泌素结合蛋白的人类cDNA和基因以及一个相关假基因的结构。

Biochim Biophys Acta. 1994 Oct 18;1219(2):567-75. doi: 10.1016/0167-4781(94)90091-4.

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

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

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein.大鼠肝脏线粒体中的新型脂肪酸β-氧化酶。II. 烯酰辅酶A水合酶/3-羟酰基辅酶A脱氢酶/3-酮酰基辅酶A硫解酶三功能蛋白的纯化及特性

J Biol Chem. 1992 Jan 15;267(2):1034-41.

Rapid and simple method for purification of nucleic acids.快速简便的核酸纯化方法。

J Clin Microbiol. 1990 Mar;28(3):495-503. doi: 10.1128/jcm.28.3.495-503.1990.

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.人肝脏长链3-羟酰基辅酶A脱氢酶是一种线粒体多功能膜结合β-氧化酶。

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

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