(Q24336106)

English

Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing

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scholarly article

0 references

Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing (English)

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Carbamoyl-phosphate synthase 1

1 reference

GOA release 2020-03-11

carbamoyl-phosphate synthase (ammonia) activity

1 reference

GOA release 2020-03-11

author name string

R Hoshide

1

author given names

R

author last names

Hoshide

1 reference

20 October 2023

T Matsuura

2

author given names

T

author last names

Matsuura

1 reference

20 October 2023

Y Haraguchi

3

author given names

Y

author last names

Haraguchi

1 reference

20 October 2023

F Endo

4

author given names

F

author last names

Endo

1 reference

20 October 2023

M Yoshinaga

5

author given names

M

author last names

Yoshinaga

1 reference

20 October 2023

I Matsuda

6

author given names

I

author last names

Matsuda

1 reference

20 October 2023

language of work or name

0 references

publication date

May 1993

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Journal of Clinical Investigation

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91

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1884-7

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5

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

19 March 2017

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

19 March 2017

Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

19 March 2017

Human carbamylphosphate synthetase I. Stabilization, purification, and partial characterization of the enzyme from human liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

19 March 2017

Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

27 September 2017

Mutations affecting expression of the rosy locus in Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

27 September 2017

Expression of nuclear genes encoding the urea cycle enzymes, carbamoyl-phosphate synthetase I and ornithine carbamoyl transferase, in rat liver and intestinal mucosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

27 September 2017

Purification, composition, and some properties of rat liver carbamyl phosphate synthetase (ammonia)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

27 September 2017

Lethal neonatal deficiency of carbamyl phosphate synthetase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

30 May 2018

A Case of Carbamyl Phosphate Synthetase Deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

30 May 2018

Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288181

30 May 2018

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea

1 reference

https://pubmed.ncbi.nlm.nih.gov/8486760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of carbamyl phosphate synthetase I deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8486760

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/8486760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of carbamyl phosphate synthetase deficiency by fetal liver biopsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8486760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and characterisation of carbamoyl phosphate synthetase from beef liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/8486760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116405

0 references

release_tldxa4vswnhjxfqnhv3cl3dizi

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