Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency (Q72743266)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

R Hoshide

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

T Matsuura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

S Komaki

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

E Koike

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

I Ueno

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

I Matsuda

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

publication date

1 January 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

857-862

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

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

28 October 2019

cites work

1 reference

12 December 2020

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis

1 reference

12 December 2020

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency

1 reference

12 December 2020

DNA analysis for ornithine transcarbamylase deficiency

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

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

1 reference

12 December 2020

Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies

1 reference

12 December 2020

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

12 December 2020

Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency

1 reference

12 December 2020

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies

1 reference

12 December 2020

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

1 reference

12 December 2020

Late-onset ornithine transcarbamylase deficiency in male patients

1 reference

12 December 2020

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

1 reference

12 December 2020

PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA

1 reference

12 December 2020

Natural history of symptomatic partial ornithine transcarbamylase deficiency

1 reference

12 December 2020

Improved molecular diagnostics for ornithine transcarbamylase deficiency

1 reference

12 December 2020

Gene action in the X-chromosome of the mouse (Mus musculus L.)

1 reference

12 December 2020

Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Estimated frequency of urea cycle enzymopathies in Japan

1 reference

12 December 2020

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

1 reference

12 December 2020

Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Structure of the human ornithine transcarbamylase gene

1 reference

12 December 2020

Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00714278

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8295401%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference