(Q48144676)

English

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

scientific article published on December 1, 1992

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Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

9 February 2018

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

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

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

90

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

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

4

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

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

379-384

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

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

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

PubMed publication ID

9 February 2018

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

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

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

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