枫糖尿症：人类支链α-酮酸脱氢酶复合体的E1β基因有11个而非10个外显子，并且两个E1β mRNA之一中的3'非翻译区源自内含子序列。 - Suppr

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超能文献

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.

作者信息

Chuang J L, Cox R P, Chuang D T

出版信息

Am J Hum Genet. 1996 Jun;58(6):1373-7.

PMID:8651316

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1915070/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cdf/1915070/67c32916ae39/ajhg00019-0281-a.jpg

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Biochim Biophys Acta. 1993 Dec 14;1216(3):499-503. doi: 10.1016/0167-4781(93)90023-7.

Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.

Biochim Biophys Acta. 1993 Nov 25;1225(1):64-70. doi: 10.1016/0925-4439(93)90123-i.

Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.

Am J Hum Genet. 1994 Aug;55(2):297-304.

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J Clin Invest. 1995 Mar;95(3):954-63. doi: 10.1172/JCI117804.

Maple syrup urine disease (MSUD): screening for known mutations in Italian patients.

J Inherit Metab Dis. 1994;17(6):652-60. doi: 10.1007/BF00712006.

cDNA cloning and expression in Escherichia coli of a plasminogen activator inhibitor from human placenta.

J Biol Chem. 1987 Mar 15;262(8):3718-25.

The 2-oxo acid dehydrogenase complexes: recent advances.

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Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex.

FEBS Lett. 1990 Mar 26;262(2):305-9. doi: 10.1016/0014-5793(90)80215-5.

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