Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum (Q34301530)

1 August 2017

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title

Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum (English)

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1 August 2017

Tuchman M

1

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1 August 2017

Plante RJ

series ordinal

2

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1 August 2017

publication date

1 January 1995

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1 August 2017

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1 August 2017

volume

5

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1 August 2017

issue

4

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1 August 2017

page(s)

293-295

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

1 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.1380050404

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.1380050404

7 January 2021

An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050404

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050404

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.1380050404

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.1380050404

7 January 2021

Mutations and polymorphisms in the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050404

7 January 2021

The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050404

7 January 2021

Seven new mutations in the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050404

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.1380050404

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050404

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1 August 2017

1 reference