(Q46240514)

20 December 2017

title

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations (English)

1 reference

20 December 2017

5

E Ciara

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20 December 2017

8

E Pronicka

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20 December 2017

3

A Tylki-Szymanska

1 reference

20 December 2017

Jolanta Sykut-Cegielska

7

object named as

J Sykut-Cegielska

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20 December 2017

A Jurecka

1

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author name string

E Popowska

2

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20 December 2017

J Kubalska

4

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20 December 2017

Z Krumina

6

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20 December 2017

language of work or name

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21 November 2008

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20 December 2017

Journal of Inherited Metabolic Disease

published in

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20 December 2017

volume

31 Suppl 2

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20 December 2017

page(s)

S447-51

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20 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

Normal HPRT coding region in complete and partial HPRT deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

Rapid assay for purine phosphoribosyltransferases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1013-8

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

21 January 2018

1 reference

12 December 2020

The spectrum of mutations causing HPRT deficiency: an update

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

1 reference

12 December 2020

Normal HPRT coding region in a male with gout due to HPRT deficiency

1 reference

12 December 2020

New mutations of the HPRT gene in Lesch-Nyhan syndrome

1 reference

12 December 2020

Screening for molecular pathologies in Lesch-Nyhan syndrome

1 reference

12 December 2020

10.1007/S10545-008-1013-8

Identifiers

DOI

1 reference

20 December 2017

release_ixqgnlxubjgzbpkyk2ab6iyx3m

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ixqgnlxubjgzbpkyk2ab6iyx3m

24 November 2022

mapped directly with Wikidata item

1 reference

20 December 2017