(Q54581984)

English

Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.

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scholarly article

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. (English)

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

author name string

A G Bouwens-Rombouts

1

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

M J van den Boogaard

2

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

J G Puig

3

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

F A Mateos

4

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

R C Hennekam

5

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

M G Tilanus

6

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

publication date

1 June 1993

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

91

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

451-454

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

5

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

https://scigraph.springernature.com/pub.10.1007/bf00217770

0 references

Nomenclature Committee of the International Union of Biochemistry (NC-IUB). Nomenclature for incompletely specified bases in nucleic acid sequences. Recommendations 1984

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

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/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

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/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A critical evaluation of methods for prediction of protein secondary structures

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

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/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

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/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

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/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8314557

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/8314557

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/8314557

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/8314557

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/8314557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00217770

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/8314557

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