(Q57563294)

English

A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

article

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Miguel Ángel García Pérez

1 reference

ORCID Public Data File 2021

author name string

M A García-Pérez

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

P S Paz Briones

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

M J García-Munñoz

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

publication date

1 November 1995

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

96

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

549-551

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystal and molecular structures of native and CTP-liganded aspartate carbamoyltransferase from Escherichia coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein differentiation: a comparison of aspartate transcarbamoylase and ornithine transcarbamoylase from Escherichia coli K-12

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

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/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The interaction between the first and last intron nucleotides in the second step of pre-mRNA splicing is independent of other conserved intron nucleotides

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/8530002

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00197410

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8530002%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q57563294&oldid=2213527161"