(Q48492547)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Saori Yamaguchi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Lisa L Brailey

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Allen E Bale

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Mendel Tuchman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

1 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

626-632

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial import and processing of mutant human ornithine transcarbamylase precursors in cultured cells

25 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Late-onset ornithine transcarbamylase deficiency in male patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Severe hyperammonaemia in a previously healthy teenager

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

7 January 2021

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Structure of the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

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.20339

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.20339

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

[Interdisciplinary treatment of early-onset ornithine transcarbamylase (OTC) deficiency. Two case reports and a review]

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

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.20339

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.20339

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.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Four new mutations in the ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Under recognition of late onset ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

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.20339

7 January 2021

Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

7 January 2021

Mutations and polymorphisms in the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

7 January 2021

Seven new mutations in the human ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

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.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

An autopsy case of ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20339

7 January 2021

Identifiers

DOI

10.1002/HUMU.20339

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16786505%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference