Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency (Q48144676)

From Wikidata

Jump to navigation Jump to search

scientific article published on December 1, 1992

Language	Label	Description	Also known as
English	Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency	scientific article published on December 1, 1992

Statements

scholarly article

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/1483694

Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1483694

1 October 2022

author name string

Y. Yamada

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1483694

1 October 2022

H. Goto

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1483694

1 October 2022

K. Suzumori

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1483694

1 October 2022

R. Adachi

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1483694

1 October 2022

N. Ogasawara

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1483694

1 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1483694

1 October 2022

publication date

1 December 1992

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/1483694

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/1483694

90

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/1483694

4

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/1483694

379-384

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/1483694

https://scigraph.springernature.com/pub.10.1007/bf00220463

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of a female Lesch-Nyhan patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improvement of PCR amplified DNA sequencing with the aid of detergents

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automated DNA sequencing of the human HPRT locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-efficiency cloning of full-length cDNA; construction and screening of cDNA expression libraries for mammalian cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1483694

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00220463

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/1483694

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/1483694

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q48144676&oldid=1892854554"