(Q72781720)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951259%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Seven new mutations in the human ornithine transcarbamylase gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951259%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

Tuchman M

1

1 reference

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29 October 2019

Plante RJ

2

1 reference

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29 October 2019

McCann MT

3

1 reference

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29 October 2019

Qureshi AA

4

1 reference

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29 October 2019

publication date

1 January 1994

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29 October 2019

1 reference

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29 October 2019

volume

4

1 reference

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29 October 2019

issue

1

1 reference

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29 October 2019

page(s)

57-60

1 reference

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Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency

29 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040109

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.1380040109

7 January 2021

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040109

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.1380040109

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.1380040109

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.1380040109

7 January 2021

Four new mutations in the ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040109

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040109

7 January 2021

Mutations and polymorphisms in the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040109

7 January 2021

Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040109

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380040109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7951259%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference