(Q35591770)

9 August 2017

Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency (English)

1 reference

9 August 2017

Maddalena A

1

1 reference

9 August 2017

Spence JE

series ordinal

2

1 reference

9 August 2017

O'Brien WE

series ordinal

3

1 reference

9 August 2017

Nussbaum RL

series ordinal

4

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 October 1988

1 reference

Journal of Clinical Investigation

9 August 2017

1 reference

9 August 2017

82

1 reference

9 August 2017

1353-1358

1 reference

9 August 2017

4

1 reference

Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

The molecular basis of the sparse fur mouse mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Nucleotide sequence of the ARG3 gene of the yeast Saccharomyces cerevisiae encoding ornithine carbamoyltransferase. Comparison with other carbamoyltransferases.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Evidence for an exceptionally reactive arginyl residue at the binding site for carbamyl phosphate in bovine ornithine transcarbamylase.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Structure of the rat ornithine carbamoyltransferase gene, a large, X chromosome-linked gene with an atypical promoter

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442691

Ornithine transcarbamylases. Ordering of S-cyano peptides and location of characteristically reactive cysteinyl residues within the sequence

26 September 2018

1 reference

12 December 2020

Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride

1 reference

12 December 2020

Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification

1 reference

12 December 2020

Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme

1 reference

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

12 December 2020

Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms

1 reference

12 December 2020

DNA analysis for ornithine transcarbamylase deficiency

1 reference

12 December 2020

Clinical application of DNA analysis in a family with OTC deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI113738

1 reference

release_tzicuusipbdkhpjb3el6f6n2gi

9 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tzicuusipbdkhpjb3el6f6n2gi

24 November 2022

mapped directly with Wikidata item

PMCID

442691

1 reference

9 August 2017

1 reference