(Q33975820)

30 July 2017

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title

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (English)

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30 July 2017

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D. G. Sculley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487231

1 October 2022

P. A. Dawson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487231

1 October 2022

B. T. Emmerson

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487231

1 October 2022

R. B. Gordon

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487231

1 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1487231

1 October 2022

publication date

1 November 1992

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30 July 2017

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30 July 2017

volume

90

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30 July 2017

issue

3

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30 July 2017

page(s)

195-207

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Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome.

30 July 2017

cites work

1 reference

12 December 2020

The diagnosis of the carrier state for the Lesch--Nyhan syndrome

1 reference

12 December 2020

Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects

1 reference

12 December 2020

Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

12 December 2020

Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families

1 reference

12 December 2020

Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme

1 reference

12 December 2020

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

1 reference

12 December 2020

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes

1 reference

12 December 2020

Organization of the HPRT gene and related sequences in the human genome

1 reference

12 December 2020

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).

1 reference

12 December 2020

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

1 reference

12 December 2020

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification

1 reference

12 December 2020

Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis

1 reference

12 December 2020

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

1 reference

12 December 2020

Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation

1 reference

12 December 2020

Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

1 reference

12 December 2020

HPRT: gene structure, expression, and mutation

1 reference

12 December 2020

The molecular characterisation of hprtchermside and HPRTcoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA

1 reference

12 December 2020

Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint)

1 reference

12 December 2020

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

1 reference

12 December 2020

Structural features of the phosphoribosyltransferases and their relationship to the human deficiency disorders of purine and pyrimidine metabolism

1 reference

12 December 2020

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

1 reference

12 December 2020

The spectrum of HPRT deficiency: an update.

1 reference

12 December 2020

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

12 December 2020

Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

1 reference

12 December 2020

Plasma oxipurinol concentrations during allopurinol therapy

1 reference

12 December 2020

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

1 reference

12 December 2020

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

12 December 2020

Self-mutilation in Lesch-Nyhan disease is caused by dopaminergic denervation

1 reference

12 December 2020

Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome

1 reference

12 December 2020

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures

1 reference

12 December 2020

Frequency of abnormal human haemoglobins caused by C----T transitions in CpG dinucleotides

1 reference

12 December 2020

Clusters of CpG dinucleotides implicated by nuclease hypersensitivity as control elements of housekeeping genes

1 reference

12 December 2020

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

12 December 2020

Molecular analysis of a female Lesch-Nyhan patient

1 reference

12 December 2020

Clinical Features of Patients With the "Partial" Deficiency of the X-Linked Uricaciduria Enzyme

1 reference

12 December 2020

Automated DNA sequencing of the human HPRT locus

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families

1 reference

12 December 2020

A catalogue of splice junction sequences

1 reference

12 December 2020

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

1 reference

12 December 2020

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

1 reference

12 December 2020

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations

1 reference

12 December 2020

First-trimester diagnosis of Lesch-Nyhan syndrome

1 reference

12 December 2020

An efficient method for sequencing PCR amplified DNA.

1 reference

12 December 2020

A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases

1 reference

12 December 2020

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects

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12 December 2020

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical Evidence of Dysfunction of Brain Neurotransmitters in the Lesch-Nyhan Syndrome

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout

1 reference

12 December 2020

Expression of active human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli and characterisation of the recombinant enzyme.

1 reference

12 December 2020

Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.

1 reference

12 December 2020

At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells

1 reference

12 December 2020

Serotonergic approaches to the modification of behavior in the Lesch-Nyhan Syndrome

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

1 reference

12 December 2020

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

1 reference

12 December 2020

Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations

1 reference

12 December 2020

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function

1 reference

12 December 2020

Altered turnover of allelic variants of hypoxanthine phosphoribosyltransferase is associated with N-terminal amino acid sequence variation

1 reference

12 December 2020

Letter: Self mutilation in Lesch-Nyhan syndrome

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme

1 reference

12 December 2020

Urinary Xanthine Stones-a Rare Complication of Allopurinol Therapy

1 reference

12 December 2020

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1 reference

12 December 2020

Analysis of cDNA encoding the hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) of Schistosoma mansoni; a putative target for chemotherapy

1 reference

12 December 2020

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects

1 reference

12 December 2020

Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00220062

1 reference

Dimensions Publication ID

30 July 2017

1006104390

0 references

1 reference