(Q35198033)

7 August 2017

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy (English)

1 reference

7 August 2017

6

J F Gusella

1 reference

7 August 2017

A I McClatchey

1

1 reference

7 August 2017

D L Kaufman

2

1 reference

7 August 2017

E L Berson

3

1 reference

7 August 2017

A J Tobin

4

1 reference

7 August 2017

V E Shih

5

1 reference

7 August 2017

V Ramesh

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 November 1990

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

47

1 reference

7 August 2017

790-794

1 reference

7 August 2017

5

1 reference

Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Supercoil sequencing: a fast and simple method for sequencing plasmid DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Molecular cloning of human ornithine aminotransferase mRNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Spontaneous splicing mutations at the dihydrofolate reductase locus in Chinese hamster ovary cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Regulation of ornithine aminotransferase in retinoblastomas

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Precise localization of human beta-globin gene complex on chromosome 11

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683684

Gyrate Atrophy of the Retina: Inborn Error of L-Ornithin:2-Oxoacid Aminotransferase

26 September 2018

1 reference

12 December 2020

Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina

1 reference

12 December 2020

Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes

1 reference

12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Identifiers

PMCID

1683684

1 reference

7 August 2017

1 reference