(Q57563284)

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Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427144%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427144%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Miguel Ángel García Pérez

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427144%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

6

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8 November 2019

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C Climent

2

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8 November 2019

P Briones

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427144%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M A Vilaseca

4

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8 November 2019

M Rodés

5

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8 November 2019

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1 November 1997

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Europe PubMed Central

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8 November 2019

Journal of Inherited Metabolic Disease

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427144%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

20

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8 November 2019

6

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Europe PubMed Central

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8 November 2019

769-777

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Europe PubMed Central

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8 November 2019

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427144

12 December 2020

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Antibodies to the alpha-subunit of insulin receptor from eggs of immunized hens

1 reference

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Detection of Protein Blots Using Enzyme-Linked Second Antibodies or Protein A

1 reference

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

1 reference

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A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427144

12 December 2020

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Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum

1 reference

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12 December 2020

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Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification

1 reference

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12 December 2020

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Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide

1 reference

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12 December 2020

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Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity

1 reference

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12 December 2020

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Rapid isolation of antigens from cells with a staphylococcal protein A-antibody adsorbent: parameters of the interaction of antibody-antigen complexes with protein A

1 reference

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12 December 2020

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Effects of pH on the kinetics of human liver ornithine-carbamyl phosphate transferase

1 reference

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12 December 2020

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The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations

1 reference

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12 December 2020

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Seven new mutations in the human ornithine transcarbamylase gene

1 reference

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12 December 2020

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Electroblotting of multiple gels: a simple apparatus without buffer tank for rapid transfer of proteins from polyacrylamide to nitrocellulose

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427144

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of ornithine transcarbamylase from normal human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427144

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and polymorphisms in the human ornithine transcarbamylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427144

12 December 2020

based on heuristic

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Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families

1 reference

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12 December 2020

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

1 reference

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12 December 2020

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Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy

1 reference

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12 December 2020

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Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences

1 reference

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12 December 2020

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Crystal structure of Pseudomonas aeruginosa catabolic ornithine transcarbamoylase at 3.0-A resolution: a different oligomeric organization in the transcarbamoylase family

1 reference

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12 December 2020

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Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427144

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the human ornithine transcarbamylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427144

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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