(Q45870212)

17 December 2017

title

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype (English)

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17 December 2017

author name string

McCullough BA

1

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17 December 2017

Yudkoff M

2

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17 December 2017

Batshaw ML

3

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17 December 2017

Wilson JM

4

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17 December 2017

Raper SE

5

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17 December 2017

Tuchman M

6

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17 December 2017

publication date

1 August 2000

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17 December 2017

American Journal of Medical Genetics Part A

published in

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17 December 2017

volume

93

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17 December 2017

issue

4

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17 December 2017

page(s)

313-319

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17 December 2017

Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution

cites work

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Structure of the human ornithine transcarbamylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Mammalian urea cycle enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Mutations and polymorphisms in the human ornithine transcarbamylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

Inequality in mutation rates of the two strands of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

In vivo nitrogen metabolism in ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M

21 January 2018

Identifiers

DOI

1 reference

17 December 2017

1 reference

17 December 2017