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English
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia
scientific journal article
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instance of
scholarly article
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
title
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia
(English)
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
main subject
isovaleric acidemia
1 reference
based on heuristic
inferred from title
author name string
J. Vockley
series ordinal
1
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
B. Parimoo
series ordinal
2
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
K. Tanaka
series ordinal
3
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
language of work or name
English
0 references
publication date
1 July 1991
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
published in
American Journal of Human Genetics
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
volume
49
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
page(s)
147–157
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
issue
1
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
cites work
Isovaleric acidemia: a new genetic defect of leucine metabolism
1 reference
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PubMed Central
reference URL
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20 March 2017
DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA
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20 March 2017
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
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PubMed Central
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20 March 2017
A simple method for displaying the hydropathic character of a protein
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PubMed Central
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20 March 2017
Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins
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PubMed Central
reference URL
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20 March 2017
Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein
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20 March 2017
Purification and characterization of isovaleryl coenzyme A dehydrogenase from rat liver mitochondria
1 reference
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PubMed Central
reference URL
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20 March 2017
Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase
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PubMed Central
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20 March 2017
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683224
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20 March 2017
Biosynthesis of four rat liver mitochondrial acyl-CoA dehydrogenases: in vitro synthesis, import into mitochondria, and processing of their precursors in a cell-free system and in cultured cells
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PubMed Central
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20 March 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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PubMed Central
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20 March 2017
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683224
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29 September 2017
Structure of the medium-chain acyl-CoA dehydrogenase from pig liver mitochondria at 3-A resolution
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29 September 2017
Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus
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29 September 2017
Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683224
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29 September 2017
An integrated family of amino acid sequence analysis programs.
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2 June 2018
Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/2063866
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMCID
1683224
0 references
PubMed ID
2063866
1 reference
stated in
PubMed
PubMed ID
2063866
retrieved
4 January 2017
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