(Q71518358)

English

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency

scientific article published on 01 January 1995

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scholarly article

1 reference

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19 October 2019

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7474892%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

T Matsuura

1

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19 October 2019

R Hoshide

2

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19 October 2019

S Komaki

3

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19 October 2019

K Kiwaki

4

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19 October 2019

F Endo

5

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19 October 2019

S Nakamura

6

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19 October 2019

T Jitosho

7

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19 October 2019

I Matsuda

8

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19 October 2019

publication date

1 January 1995

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19 October 2019

Journal of Inherited Metabolic Disease

1 reference

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19 October 2019

18

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19 October 2019

273-282

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19 October 2019

3

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19 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00710415

0 references

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

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Expression and regulation of Escherichia coli lacZ gene fusions in mammalian cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

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Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

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Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved molecular diagnostics for ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimated frequency of urea cycle enzymopathies in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

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/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7474892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00710415

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7474892%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7474892%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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