首页> 美国卫生研究院文献>American Journal of Human Genetics >Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons and the 3 UTR in one of the two E1beta mRNAs arises from intronic sequences.

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Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons and the 3 UTR in one of the two E1beta mRNAs arises from intronic sequences.

机译：枫糖浆尿病：人支链α-酮酸脱氢酶复合物的E1beta基因具有11个外显子而不是10个外显子两个E1beta mRNA中的3UTR来源于内含子序列。

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期刊名称 American Journal of Human Genetics
作者
J. L. Chuang; R. P. Cox; D. T. Chuang;
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作者单位

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年(卷),期 1996(58),6
年度 1996
页码 1373–1377
总页数 5
原文格式 PDF
正文语种
中图分类遗传学;
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专利

1. Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease [J] . AEvarsson A., Wynn RM., Turley S., Structure . 2000,第3期

机译：枫糖浆尿病中人支链α-酮酸脱氢酶的晶体结构和多酶复合物缺乏的分子基础
2. Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes [J] . Molecular genetics and metabolism . 2020,第3期

机译：分枝链α-酮酸脱氢酶缺乏（枫糖浆尿液）：治疗，生物标志物和结果
3. A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease [J] . OyarzabalA., Martínez-PardoM., MerineroB., Human mutation . 2013,第2期

机译：PPM1K基因突变导致的支链α-酮酸脱氢酶复合物中的新型调节缺陷导致枫糖尿病的轻度变异表型。
4. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. [O] . Y Nobukuni, H Mitsubuchi, I Akaboshi, 1991

机译：枫糖浆尿病。该支链α-酮酸脱氢酶复合物的E1β亚基的完全缺陷是由于该疾病家族中编码线粒体靶向前导肽的11 bp重复序列的缺失所致。
5. Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. [O] . Nobukuni, Y, Mitsubuchi, H, Endo, F, 1990

机译：枫糖浆尿病。人类支链α-酮酸脱氢酶复合物的E1β亚基的完整一级结构，从核苷酸序列推导，并对该患者进行了基因分析。

Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons and the 3 UTR in one of the two E1beta mRNAs arises from intronic sequences.

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