Mutations and polymorphisms in the human ornithine transcarbamylase gene (Q56225433)

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

Europe PubMed Central

title

Mutations and polymorphisms in the human ornithine transcarbamylase gene (English)

0 references

author name string

Mendel Tuchman

series ordinal

1

0 references

publication date

1993

0 references

published in

Human Mutation

0 references

volume

2

0 references

issue

3

0 references

page(s)

174-178

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Late-onset ornithine transcarbamylase deficiency in male patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Structure of the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

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.1380020304

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.1380020304

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

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.1380020304

7 January 2021

A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

2.5 A structure of aspartate carbamoyltransferase complexed with the bisubstrate analog N-(phosphonacetyl)-L-aspartate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

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.1380020304

7 January 2021

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

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.1380020304

7 January 2021

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Natural history of symptomatic partial ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020304

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.1380020304

7 January 2021