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English
Screening for molecular pathologies in 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
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
title
Screening for molecular pathologies in Lesch-Nyhan syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
author
Marie Boyd
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
author name string
Lanyon WG
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
Connor JM
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
publication date
1 January 1993
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
volume
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
page(s)
127-130
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
cites work
The HPRT locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
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.1380020212
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.1380020212
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.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A specific enzyme defect in gout associated with overproduction of uric acid
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
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.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Organization of the HPRT gene and related sequences in the human genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020212
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380020212
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
PubMed publication ID
8318989
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8318989
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8318989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 October 2019
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