(Q42035928)

English

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

scientific article published on April 1990

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

Lesch-Nyhan syndrome

0 references

author name string

S Fujimori

1

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

N Kamatani

2

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

Y Nishida

3

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

N Ogasawara

4

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

I Akaoka

5

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

publication date

1 April 1990

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

84

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

483-486

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

Human hypoxanthine-guanine phosphoribosyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

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/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

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/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A method for specific cloning and sequencing of human hprt cDNA for mutation analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lesch-Nyhan syndrome in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

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/2323782

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/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

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/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2323782

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00195826

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

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