(Q74127568)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

M Shimadzu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H Matsumoto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

T Matsuura

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

K Kobayashi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S Komaki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

K Kiwaki

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

R Hoshide

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

F Endo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

T Saheki

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

I Matsuda

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 January 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

S5-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

Structure of the human ornithine transcarbamylase gene

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

Estimated frequency of urea cycle enzymopathies in Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

Seven new mutations in the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110103

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452024%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference