(Q35810408)

10 August 2017

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

1 reference

gyrate atrophy of the choroid

10 August 2017

1 reference

G A Mitchell

1

1 reference

10 August 2017

L C Brody

2

1 reference

10 August 2017

J Looney

3

1 reference

10 August 2017

G Steel

4

1 reference

10 August 2017

M Suchanek

5

1 reference

10 August 2017

C Dowling

6

1 reference

10 August 2017

V Der Kaloustian

7

1 reference

10 August 2017

M Kaiser-Kupfer

8

1 reference

10 August 2017

D Valle

9

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 February 1988

1 reference

Journal of Clinical Investigation

10 August 2017

1 reference

10 August 2017

81

1 reference

10 August 2017

630-633

1 reference

10 August 2017

2

1 reference

Saccharomyces cerevisiae ribosomes recognize non-AUG initiation codons

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Comparison of initiation of protein synthesis in procaryotes, eucaryotes, and organelles

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

The molecular basis of the sparse fur mouse mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Molecular cloning of human ornithine aminotransferase mRNA

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

The varieties of mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Molecular genetics of hemophilia A in man (factor VIII deficiency).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Detection of high incidence of K-ras oncogenes during human colon tumorigenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

A method to detect and characterize point mutations in transcribed genes: amplification and overexpression of the mutant c-Ki-ras allele in human tumor cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

DNA sequencing with chain-terminating inhibitors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Segment-specific mutagenesis of the regulatory region in the Escherichia coli galactose operon: isolation of mutations reducing the initiation of transcription and translation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329615

Genetic diseases in Lebanon

25 September 2018

1 reference

12 December 2020

Initiation codon mutation as a cause of alpha thalassemia

1 reference

12 December 2020

The primary structure of ornithine aminotransferase. Identification of active-site sequence and site of post-translational proteolysis

1 reference

12 December 2020

Direct cloning and sequence analysis of enzymatically amplified genomic sequences

1 reference

12 December 2020

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

1 reference

12 December 2020

Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI113365

1 reference

10 August 2017

1 reference

10 August 2017

1 reference