Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

Item
http://www.wikidata.org/entity/Q24316978
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemiaStructural organization of the human short-chain acyl-CoA dehydrogenase geneClear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase geneOrganic acidurias and related abnormalities.Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.Mammalian mitochondrial beta-oxidation.Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels.A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolRetrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
P2860

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

Item
http://www.wikidata.org/entity/Q24316978
description
1991 nî lūn-bûn
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1991 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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1991 թվականի ապրիլին հրատարակված գիտական հոդված
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1991年の論文
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1991年論文
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1991年論文
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1991年论文
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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Molecular characterization of ...... tant enzyme protein in E. coli
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P2093
P2888
P304
P31
P356
P407
P433
P478
P577
P6179
P698
P921