(Q40474602)

English

Point Mutations in PRPS1, the Gene Encoding the PRPP Synthetase (PRS) 1 Isoform, Underlie X-Linked PRS Superactivity Associated with Purine Nucleotide Inhibitor-Resistance

scientific article published on January 1, 1994

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

1 reference

Europe PubMed Central

Point Mutations in PRPS1, the Gene Encoding the PRPP Synthetase (PRS) 1 Isoform, Underlie X-Linked PRS Superactivity Associated with Purine Nucleotide Inhibitor-Resistance (English)

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

author name string

M. A. Becker

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%3A7661003

27 July 2024

J. M. Nosal

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%3A7661003

27 July 2024

R. L. Switzer

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%3A7661003

27 July 2024

P. R. Smith

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%3A7661003

27 July 2024

T. D. Palella

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%3A7661003

27 July 2024

B. J. Roessler

6

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%3A7661003

27 July 2024

language of work or name

0 references

publication date

1 January 1994

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

full work available at URL

http://link.springer.com/content/pdf/10.1007/978-1-4615-2584-4_147

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Advances in Experimental Medicine and Biology

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

370

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

707-710

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.

2

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme

4

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate

5

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions

6

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes

9

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript

10

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes

11

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Use of T7 RNA polymerase to direct expression of cloned genes

15

1 reference

10.1007/978-1-4615-2584-4_147

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_147

27 July 2024

Identifiers

10.1007/978-1-4615-2584-4_147

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

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=Q40474602&oldid=2213938197"