A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome (Q38357069)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Lesch-Nyhan syndrome

0 references

6

object named as

Oded Sperling

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

author name string

Esther Zoref-Shani

1

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Yael Bromberg

2

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Joel Hirsch

3

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Sofia Feinstein

4

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Yaacov Frishberg

5

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

publication date

1 February 2003

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

78

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

158-161

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Automated DNA sequencing of the human HPRT locus

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Phosphoribosylpyrophosphate in man: biochemical and clinical significance

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The spectrum of HPRT deficiency: an update.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Purine phosphoribosyltransferases.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Kinetic mechanism of human hypoxanthine-guanine phosphoribosyltransferase: rapid phosphoribosyl transfer chemistry

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Raster3D: photorealistic molecular graphics

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900002-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1096-7192(03)00002-7

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 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=Q38357069&oldid=1755719518"