(Q54543779)

31 May 2018

title

Normal HPRT coding region in complete and partial HPRT deficiency. (English)

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31 May 2018

author name string

Marta G García

1

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31 May 2018

Rosa J Torres

2

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31 May 2018

Carmen Prior

3

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31 May 2018

Juan G Puig

4

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31 May 2018

publication date

7 March 2008

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31 May 2018

Molecular Genetics and Metabolism

published in

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31 May 2018

volume

94

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31 May 2018

issue

2

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31 May 2018

page(s)

167-172

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31 May 2018

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

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A specific enzyme defect in gout associated with overproduction of uric acid

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The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families

7 January 2021

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HPRT: gene structure, expression, and mutation

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Hypoxanthine-guanine phosphoribosyl transferase: assay using high performance liquid chromatography

7 January 2021

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

7 January 2021

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Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

7 January 2021

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Regulatory elements in the introns of the human HPRT gene are necessary for its expression in embryonic stem cells

7 January 2021

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Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale

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Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

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Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency

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Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome

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

7 January 2021

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Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia

7 January 2021

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7 January 2021

Identifiers

DOI

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31 May 2018

release_qu2tyilhzzakzi56zlt7f7b65a

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/qu2tyilhzzakzi56zlt7f7b65a

mapped directly with Wikidata item

24 November 2022

based on heuristic

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31 May 2018