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English
Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
scientific article published on 01 August 1999
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
title
Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
author name string
F Bowling
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
I McGown
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
J McGill
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
D Cowley
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
M Tuchman
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
publication date
1 August 1999
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
volume
85
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
page(s)
452-454
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
cites work
Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C452%3A%3AAID-AJMG4%3E3.0.CO%3B2-4
retrieved
21 January 2018
Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C452%3A%3AAID-AJMG4%3E3.0.CO%3B2-4
retrieved
21 January 2018
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C452%3A%3AAID-AJMG4%3E3.0.CO%3B2-4
retrieved
21 January 2018
Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C452%3A%3AAID-AJMG4%3E3.0.CO%3B2-4
retrieved
21 January 2018
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C452%3A%3AAID-AJMG4%3E3.0.CO%3B2-4
retrieved
21 January 2018
The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C452%3A%3AAID-AJMG4%3E3.0.CO%3B2-4
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19990827)85:5<452::AID-AJMG4>3.0.CO;2-4
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
PubMed ID
10405441
1 reference
stated in
Europe PubMed Central
PubMed ID
10405441
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10405441%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
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