The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases (Q34053177)

30 July 2017

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title

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

1 reference

30 July 2017

Jinnah HA

1

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30 July 2017

De Gregorio L

2

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30 July 2017

Harris JC

3

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30 July 2017

Nyhan WL

4

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30 July 2017

O'Neill JP

5

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30 July 2017

language of work or name

English

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publication date

1 October 2000

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30 July 2017

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30 July 2017

463

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30 July 2017

309-326

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30 July 2017

3

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Comparative gene mapping: order of loci on the X chromosome is different in mice and humans

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Localization of genes coding for PGK, HPRT, and G6PD on the long arm of the X chromosome in somatic cell hybrids

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

The organization of the human HPRT gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

HPRT: gene structure, expression, and mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Bam HI restriction fragment length polymorphisms for hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene of carriers and controls of HPRT deficiency in Japan.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

X-linked polymorphism of hypoxanthine phosphoribosyl transferase gene (HPRT) in Chinese females

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Clinical Features of Patients With the "Partial" Deficiency of the X-Linked Uricaciduria Enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Automated DNA sequencing of the human HPRT locus

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

In vivo mutation at the human HPRT locus

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular analysis of mutation in the human gene for hypoxanthine phosphoribosyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-based substitution mutation in the human HPRT gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important regi

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Ternary complex structure of human hgprtase, prpp, mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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%2FS1383-5742%2800%2900052-1

7 January 2021

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%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase manifesting as acute renal damage

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Screening for molecular pathologies in Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

HPRT-mutations in Italian Lesch-Nyhan patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Direct evidence for a hot spot of germline mutation at HPRT locus

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency in two Korean siblings--a new mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Japanese patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Identification of Two Independent Japanese Mutant HPRT Genes Using the PCR Technique

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

A new point mutation in a hypoxanthine phosphoribosyltransferase-deficient patient

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

The molecular characterisation of hprtchermside and HPRTcoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Characterization of three new deletions at the 5' end of the HPRT structural gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Lesch-Nyhan syndrome and HPRT variants: study of heterogeneity at the gene level

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular analysis of a female Lesch-Nyhan patient

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

An unexpected affected female patient in a classical Lesch-Nyhan family

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

Molecular mechanisms of the second female Lesch-Nyhan patient.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900052-1

7 January 2021

10.1016/S1383-5742(00)00052-1

Identifiers

DOI

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30 July 2017

1 reference