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New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
title
New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
author name string
R L Nussbaum
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
B A Boggs
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
A L Beaudet
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
S Doyle
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
J L Potter
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
W E O'Brien
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
language of work or name
English
0 references
publication date
1 February 1986
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
volume
38
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
page(s)
149-158
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
cites work
Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684765
retrieved
13 July 2018
Carrier detection in ornithine transcarbamylase deficiency
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/3004207
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/3004207
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/3004207
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/3004207
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1684765
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
PubMed publication ID
3004207
1 reference
stated in
Europe PubMed Central
PMC publication ID
1684765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3004207%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 October 2019
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