(Q24308953)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

Argininosuccinate synthase 1

29 October 2019

main subject

1 reference

GOA release 2020-03-11

amino acid binding

1 reference

GOA release 2020-03-11

1 reference

Kobayashi K

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Shaheen N

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Terazono H

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Saheki T

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

0 references

publication date

1 December 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

1103-1112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

Sequence for human argininosuccinate synthetase cDNA

29 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Use of T7 RNA polymerase to direct expression of cloned genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

The human argininosuccinate synthetase locus and citrullinemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Additional mutations in argininosuccinate synthetase causing citrullinemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Isolation and characterization of argininosuccinate synthetase from human liver

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

A search for the primary abnormality in adult-onset type II citrullinemia.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Messenger RNA coding for argininosuccinate synthetase in citrullinemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Conservation of structure in the human gene encoding argininosuccinate synthetase and the argG genes of the archaebacteria Methanosarcina barkeri MS and Methanococcus vannielii

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Molecular definition of bovine argininosuccinate synthetase deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Sequences of the genes encoding argininosuccinate synthetase in Escherichia coli and Saccharomyces cerevisiae: comparison with methanogenic archaebacteria and mammals

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Molecular characterization of the murine argininosuccinate synthetase locus

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918437

A case of citrullinemia with abnormal messenger RNA for argininosuccinate synthetase

28 July 2018

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

1 reference

12 December 2020

Some properties of argininosuccinate synthetase purified from human liver and a comparison with the rat liver enzyme

1 reference

12 December 2020

Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan

1 reference

12 December 2020

Clinical application of enzyme immunoassay in the analysis of citrullinemia

1 reference

12 December 2020

Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria

1 reference

12 December 2020

Analysis of deletions at the human argininosuccinate synthetase locus

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977368%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

PubMed publication ID

7977368

1 reference