(Q24678128)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

author name string

Hata A

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

Setoyama C

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

Shimada K

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

Takeda E

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

Kuroda Y

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

Akaboshi I

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

Matsuda I

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

language of work or name

English

0 references

publication date

1 July 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

page(s)

123-127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

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

4 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=1683378

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

X-chromosome inactivation and developmental patterns in mammals

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Lysosomal enzyme activities in cultured lymphoid cell lines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Effect of long-term administration of sodium benzoate to a patient with partial ornithine carbamoyl transferase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Eukaryotic dinucleotide preference rules and their implications for degenerate codon usage

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683378

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2741942

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2741942

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

2361922

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2361922

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2741942%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

2 references

Consolidated OpenCitations Corpus – April 2017

2361922