(Q40773424)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668636%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

title

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

1 reference

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13 November 2019

0 references

4

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13 November 2019

author name string

Mizunuma M

1

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13 November 2019

Fujimori S

2

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13 November 2019

Ogino H

3

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13 November 2019

Inoue H

5

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13 November 2019

Kamatani N

6

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13 November 2019

publication date

1 November 2001

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13 November 2019

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13 November 2019

volume

18

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13 November 2019

issue

5

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13 November 2019

page(s)

435-443

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Lesch-Nyhan syndrome: carrier and prenatal diagnosis

13 November 2019

cites work

1 reference

Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

Software for the analysis of mutations at the human hprt gene

21 January 2018

1 reference

Automated DNA sequencing of the human HPRT locus

21 January 2018

1 reference

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

21 January 2018

1 reference

V(D)J recombinase-mediated deletion of the hprt gene in T-lymphocytes from adult humans

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Maternal inheritance of human mitochondrial DNA

21 January 2018

1 reference

Spectrum of spontaneous HPRT- mutations in TK6 human lymphoblasts

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions

21 January 2018

1 reference

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

21 January 2018

1 reference

Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts

21 January 2018

1 reference

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

21 January 2018

1 reference

Molecular analysis of hprt mutants induced by 2-cyanoethylene oxide in human lymphoblastoid cells

21 January 2018

1 reference

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

21 January 2018

1 reference

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

21 January 2018

1 reference

The mutation rate in the human mtDNA control region

21 January 2018

1 reference

African Populations and the Evolution of Human Mitochondrial DNA

21 January 2018

1 reference

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

21 January 2018

1 reference

Development of long PCR techniques to analyze deletion mutations of the human hprt gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/HUMU.1214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11668636%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference