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Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
title
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease)
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
main subject
congenital disorder
0 references
congenital erythropoietic porphyria
1 reference
based on heuristic
inferred from title
Erythropoietic porphyria
1 reference
based on heuristic
inferred from title
author name string
Deybach JC
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
de Verneuil H
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
Boulechfar S
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
Grandchamp B
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
Nordmann Y
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
language of work or name
English
0 references
publication date
1 May 1990
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
published in
Blood
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
volume
75
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
issue
9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
page(s)
1763-1765
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
Identifiers
PubMed publication ID
2331520
1 reference
stated in
Europe PubMed Central
PubMed publication ID
2331520
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2331520%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 September 2019
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