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English
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
case report
0 references
title
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
main subject
congenital disorder
0 references
Leber congenital amaurosis
1 reference
based on heuristic
inferred from title
heterozygosity
1 reference
based on heuristic
inferred from title
author
Isabelle Perrault
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Sylvie Gerber
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Jean-michel Rozet
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
author name string
S Hanein
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
F Barbet
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
J-L Dufier
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
A Munnich
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
J Kaplan
series ordinal
8
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
language of work or name
English
0 references
publication date
1 July 2003
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
volume
40
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
issue
7
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
page(s)
e90
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Identifiers
DOI
10.1136/JMG.40.7.E90
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
PMCID
1735514
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
PubMed ID
12843339
1 reference
stated in
Europe PubMed Central
PMCID
1735514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12843339%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
ResearchGate publication ID
10676984
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