(Q71808572)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7586656%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7586656%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch‐Nyhan syndrome (English)

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

26 May 2024

author name string

P. J. Renwick

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7586656

26 May 2024

A. J. Birley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7586656

26 May 2024

C. M. McKeown

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7586656

26 May 2024

M. Hultén

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7586656

26 May 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7586656

26 May 2024

publication date

1 August 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7586656%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

21 October 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1995.tb04060.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1995.tb04060.x

26 May 2024

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

26 May 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7586656%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7586656%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7586656%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

80-84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7586656%20AND%20SRC:MED&resulttype=core&format=json

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

21 October 2019

cites work

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects

26 May 2024

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

A comprehensive set of sequence analysis programs for the VAX

26 May 2024

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

Automated DNA sequencing of the human HPRT locus

26 May 2024

6

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

7

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

8

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

9

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

10

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

12

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

13

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

14

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

15

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

26 May 2024

16

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

Organization of the HPRT gene and related sequences in the human genome

26 May 2024

17

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

18

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

19

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

21

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

22

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

23

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

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

26 May 2024

24

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB04060.X

26 May 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7586656%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference