(Q73075734)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

I Willers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

H Bolz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Wehnert

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A Gal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 October 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

845-846

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10518289%20AND%20SRC:MED&resulttype=core&format=json

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

1 November 2019

cites work

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10518289

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Studies in fibroblasts of patients with the Lesch-Nyhan syndrome and HPRT variants. Correlation of HPRT activity with hypoxanthine utilization and growth in selection media.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10518289

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10518289