(Q34109571)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11793468%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

review article

1 reference

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11793468%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

3

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6 December 2019

author name string

Mendel Tuchman

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11793468%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Naser Jaleel

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11793468%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Lisa Sheehy

4

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6 December 2019

Michael G Lynch

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11793468%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 February 2002

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6 December 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11793468%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

19

1 reference

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6 December 2019

issue

2

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6 December 2019

page(s)

93-107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11793468%20AND%20SRC:MED&resulttype=core&format=json

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency

6 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Late-onset ornithine transcarbamylase deficiency in male patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Structure of the human ornithine transcarbamylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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%2FHUMU.10035

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%2FHUMU.10035

Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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].

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Raster3D: photorealistic molecular graphics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Vomiting, ataxia, and altered mental status in an adolescent: late-onset ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Under recognition of late onset ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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%2FHUMU.10035

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Inequality in mutation rates of the two strands of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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%2FHUMU.10035

Mutations and polymorphisms in the human ornithine transcarbamylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Severe hyperammonaemia in a previously healthy teenager

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

The ornithine transcarbamylase (OTC) gene: Mutations in 50 Japanese families with OTC deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Identification of four novel splice site mutations in the ornithine transcarbamylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Four new mutations in the ornithine transcarbamylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Seven new mutations in the human ornithine transcarbamylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10035

21 January 2018

Identifiers

DOI

10.1002/HUMU.10035

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11793468%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference