At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. (Q33828767)

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29 September 2019

title

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

1 reference

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gyrate atrophy of the choroid

29 September 2019

main subject

1 reference

6

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29 September 2019

author name string

G A Mitchell

1

1 reference

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29 September 2019

L C Brody

2

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29 September 2019

I Sipila

3

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29 September 2019

J E Looney

4

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29 September 2019

C Wong

5

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29 September 2019

A S Patel

7

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29 September 2019

G Steel

8

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29 September 2019

C Obie

9

1 reference

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29 September 2019

M Kaiser-Kupfer

10

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29 September 2019

language of work or name

English

0 references

publication date

1 January 1989

1 reference

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Proceedings of the National Academy of Sciences of the United States of America

29 September 2019

published in

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29 September 2019

volume

86

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issue

1

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page(s)

197-201

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

29 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

Proline biosynthesis: multiple defects 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=286431

Raised plasma-ornithine and 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=286431

Human GM-CSF: molecular cloning of the complementary DNA and purification of the natural and recombinant proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

Measurement of protein using bicinchoninic acid

28 July 2018

1 reference

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High-efficiency transformation of mammalian cells by 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=286431

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=286431

Identification of conserved isotype-defining variable region sequences for four vertebrate beta tubulin polypeptide classes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

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=286431

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

Functional analysis of the regulatory region adjacent to the cargB gene of Saccharomyces cerevisiae. Nucleotide sequence, gene fusion experiments and cis-dominant regulatory mutation analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

DNA sequencing with chain-terminating inhibitors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

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=286431

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286431

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

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2492100

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expression and regulation of Escherichia coli lacZ gene fusions in mammalian cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2492100

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.86.1.197

1 reference

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29 September 2019

0 references

1 reference

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29 September 2019

PubMed publication ID

2492100

1 reference