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English
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome
scientific article published on 01 January 1993
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
title
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
author name string
Marcus S
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
Christensen E
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
Malm G
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
publication date
1 January 1993
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
volume
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
issue
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
page(s)
473-477
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
cites work
Mutations causing defective splicing in the human hprt gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of cDNA encoding the hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) of Schistosoma mansoni; a putative target for chemotherapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Automated DNA sequencing of the human HPRT locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterisation of cDNA clones for hypoxanthine-guanine phosphoribosyltransferase from the human malarial parasite, Plasmodium falciparum: comparisons to the mammalian gene and protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fine structure of the human hypoxanthine phosphoribosyltransferase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations affecting RNA splicing in man are detected more frequently in somatic than in germ cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of mutations affecting hprt mRNA splicing in human T-lymphocytes in vivo
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020608
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380020608
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
PubMed publication ID
8111415
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8111415
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8111415%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
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