(Q41255673)

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Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554073%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554073%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

very long chain acyl-CoA dehydrogenase deficiency

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Souri M

1

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14 October 2019

Aoyama T

2

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14 October 2019

Orii K

3

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14 October 2019

Yamaguchi S

4

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14 October 2019

Hashimoto T

5

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14 October 2019

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1 January 1996

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14 October 2019

American Journal of Human Genetics

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Europe PubMed Central

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14 October 2019

58

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14 October 2019

1

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14 October 2019

97-106

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14 October 2019

A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase

1 reference

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Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients

1 reference

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Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of [...]

1 reference

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Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients

1 reference

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28 September 2017

Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients

1 reference

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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Premature translation termination mediates triosephosphate isomerase mRNA degradation

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28 September 2017

Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase fami

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

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28 September 2017

Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency

1 reference

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28 September 2017

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

1 reference

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28 September 2017

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase

1 reference

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28 September 2017

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

1 reference

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28 September 2017

Efficient selection for high-expression transfectants with a novel eukaryotic vector

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Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products

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28 September 2017

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914938

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Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

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DNA sequencing with chain-terminating inhibitors

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Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria

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Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

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The long-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assay of acyl-CoA dehydrogenase activity in frozen muscle biopsies: application to medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer

1 reference

https://pubmed.ncbi.nlm.nih.gov/8554073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554073%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554073%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

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