(Q24628809)

English

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

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scholarly article

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

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Lesch-Nyhan syndrome

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author name string

S Fujimori

1

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B L Davidson

2

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W N Kelley

3

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T D Palella

4

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language of work or name

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publication date

January 1989

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Journal of Clinical Investigation

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83

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11-3

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1

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

7 April 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

7 April 2017

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

7 April 2017

Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

7 April 2017

Empirical Predictions of Protein Conformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

7 April 2017

Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

27 September 2017

A specific enzyme defect in gout associated with overproduction of uric acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

27 September 2017

Disease diagnosis by recombinant DNA methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303636

30 May 2018

Expression of human and Chinese hamster hypoxanthine-guanine phosphoribosyltransferase cDNA recombinants in cultured Lesch-Nyhan and Chinese hamster fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/2910902

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations affecting the 12th and 61st amino acids of p21 protein result in decreased probability of beta-turn occurrence around the mutation positions: a prediction

1 reference

https://pubmed.ncbi.nlm.nih.gov/2910902

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2910902

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI113846

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