About: Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families

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About: Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	wissenschaftlicher Artikel (de) artículu científicu espublizáu en 1993 (ast) vědecký článek publikovaný v roce 1993 (cs) مقالة علمية (نشرت عام 1993) (ar) 1993 թվականի հունվարին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована в січні 1993 (uk) 1993 թուականի Յունուարին հրատարակուած գիտական յօդուած (hyw) vedecký článok (publikovaný 1993/01/01) (sk) scientific journal article (en) wetenschappelijk artikel (gepubliceerd op 1993/01/01) (nl)
publication date	wds:Q28118702-E0260C7E-0067-433F-9968-9ADE012FB4CB
publication date	1993-01-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q28118702-1D289F9A-4CEC-4C3F-A6A8-46714A6D1F1D wds:Q28118702-22FA5AF1-690D-4C22-BFB9-3EB92B3C4056 wds:Q28118702-3404FE0B-C906-418E-8668-9F9B5D26A19E wds:Q28118702-36493392-7E04-4550-9A2C-E4C760741B4C wds:Q28118702-3D951112-8CED-4E3D-A338-29B8BBBA4675 wds:Q28118702-40226A82-73CC-4A97-A44E-905C28D84A18 wds:Q28118702-43CAB8C5-6303-4570-86E1-55EF1F94C775 wds:Q28118702-45ABD492-69A4-4B70-BB90-0096B0AC6DDE wds:Q28118702-5ACACDD9-16FB-4AA7-9955-1E8A46B8FC0E wds:Q28118702-64D9E3C4-1449-4329-9CE9-34ADC2AC58F7 wds:Q28118702-69D790D5-82B4-49F2-AEC4-89C4A8E8F6A0 wds:Q28118702-6E4589D9-F223-4E60-BE12-1471D0551A64 wds:Q28118702-7F5E2F2A-EA76-4453-81DF-967ECA47A344 wds:Q28118702-8396B51C-677F-4F8F-B93C-8B594EF029A5 wds:Q28118702-99CD72D6-B3DF-4F63-A403-FBF678B54B26 wds:Q28118702-A0BC5598-5BEB-4DC7-8490-031E28B48749 wds:Q28118702-B8BB6EF4-3F41-4482-A548-96E64DB956EE wds:Q28118702-C868B491-AF12-4A73-957B-5C8ED3FF040D wds:Q28118702-D19B4AEB-64B8-4F1F-8F67-19F842088700 wds:Q28118702-F91946EC-A368-4EAD-A02C-0BC46FC73E4E wds:Q28118702-F9396240-11AC-4363-BEC7-C61342ECE953 wds:Q28118702-FBCA9D7A-F9E6-4739-940D-F01FA9A61E9C
cites work	Efficient selection for high-expression transfectants with a novel eukaryotic vector Context effects and inefficient initiation at non-AUG codons in eucaryotic cell-free translation systems Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency The oxoacyl-coenzyme A thiolases of animal tissues The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3----q23.1 by fluorescence in situ hybridization Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
author name string	wds:Q28118702-0BA0FA83-E851-4F8B-9FA7-C9C7E43420DD wds:Q28118702-2B722901-F6A8-49D0-B729-1F617D824DA5 wds:Q28118702-2EC29D3D-2859-41C1-A2EC-B80554179D9C wds:Q28118702-333529EF-A474-4285-B8F1-CF29AF0B7729 wds:Q28118702-3C58C2E6-941D-47E5-975E-DB4A0A062339 wds:Q28118702-42A454E7-E77F-468E-9235-243E3BE2CB91 wds:Q28118702-4E9BBF1B-7240-4367-8979-24B74739E4A7 wds:Q28118702-DAF6CA28-03AA-40DC-990A-F8EB6B0159FB
author name string	C. R. Scriver T. Hashimoto T. Orii S. Yamaguchi T. Fukao A. Wakazono M. Kano G. Dunbar
rdfs:label	Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (en) Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (nl) Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (ast)
skos:prefLabel	Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (en) Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (nl) Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (ast)
name	Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (en) Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (nl) Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (ast)
title	wds:Q28118702-95B185E9-CD40-4742-8037-9741A56CDC58
title	Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (en)
page(s)	wds:Q28118702-B4F6F0C1-3819-423F-89F5-4A147E5B10EE
page(s)	214–220
instance of	wds:Q28118702-D4691508-9321-4E9F-92B0-2255A7B78F6D
instance of	scholarly article
main subject	wds:Q28118702-5C10B31E-EF64-43CE-97B2-43B0AB6172E4 wds:Q28118702-8A65ACD1-1884-4792-963B-E574CAD2F9C1 wds:Q28118702-F8BA0581-22DC-44A3-9349-76DA10BC65E0
main subject	mitochondrion isoleucine catabolic process Acetyl-CoA acetyltransferase 1
PubMed ID	wds:Q28118702-96EB5C5A-861C-4D78-9ACF-318C503A603C
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8103405
PubMed ID	8103405
published in	wds:Q28118702-65E61C36-8E63-4267-BDC2-A3A785647A37
published in	Human Mutation
issue	wds:Q28118702-E060A569-E29B-4C70-9A0B-B25E3873B8DD

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