(Q24561674)

English

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

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scholarly article

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Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme (English)

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author name string

Y Hidaka

1

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T D Palella

2

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T E O'Toole

3

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S A Tarlé

4

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W N Kelley

5

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language of work or name

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publication date

November 1987

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Journal of Clinical Investigation

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80

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1409-15

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5

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Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose

1 reference

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24 March 2017

Purification of Biologically Active Globin Messenger RNA by Chromatography on Oligothymidylic acid-Cellulose

1 reference

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24 March 2017

DNA sequencing with chain-terminating inhibitors

1 reference

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24 March 2017

Organization and expression of eucaryotic split genes coding for proteins

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24 March 2017

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

1 reference

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2 New M13 vectors for cloning

1 reference

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Efficient isolation of genes by using antibody probes

1 reference

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24 March 2017

A simple and very efficient method for generating cDNA libraries

1 reference

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

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Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme

1 reference

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Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population

1 reference

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Lariat RNA's as Intermediates and Products in the Splicing of Messenger RNA precursors

1 reference

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Excision of an intact intron as a novel lariat structure during pre-mRNA splicing in vitro

1 reference

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Human adenine phosphoribosyltransferase. Affinity purification, subunit structure, amino acid composition, and peptide mapping

1 reference

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High-Efficiency Cloning of Full-Length cDNA

1 reference

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Splicing of messenger RNA precursors

1 reference

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Mutation in an intervening sequence splice junction in man

1 reference

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2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.

1 reference

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27 September 2017

Cloning the complete human adenine phosphoribosyl transferase gene

1 reference

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27 September 2017

Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: Identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants

1 reference

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Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

1 reference

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27 September 2017

Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization

1 reference

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Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli

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Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies

1 reference

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27 September 2017

Sequence of three introns in the chick ovalbumin gene

1 reference

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

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Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.

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8-Hydroxyadenine as the intermediate in the oxidation of adenine to 2, 8-dihydroxyadenine by xanthine oxidase

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Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1 reference

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based on heuristic

inferred from PubMed ID database lookup

[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3680503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purine enzyme abnormalities: a four year experience

1 reference

https://pubmed.ncbi.nlm.nih.gov/3680503

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based on heuristic

inferred from PubMed ID database lookup

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/3680503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/3680503

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based on heuristic

inferred from PubMed ID database lookup

Structural analysis of a beta-thalassemia gene found in Taiwan

1 reference

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inferred from PubMed ID database lookup

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

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inferred from PubMed ID database lookup

Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/3680503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human adenine phosphoribosyltransferase: characterization from subjects with a deficiency of enzyme activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/3680503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role for exon sequences and splice-site proximity in splice-site selection

1 reference

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Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

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Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media

1 reference

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI113219

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