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The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
title
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
main subject
aniridia
1 reference
based on heuristic
inferred from title
author
Veronica van Heyningen
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Isabel Hanson
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
author name string
R Axton
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
S Danes
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
G Sellar
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
J Prosser
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
language of work or name
English
0 references
publication date
1 April 1997
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
volume
34
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
page(s)
279-286
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
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stated in
PubMed Central
reference URL
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Isolation of a Pax-6 homolog from the ribbonworm Lineus sanguineus
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PubMed Central
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21 June 2018
PAX6 mutations in aniridia
1 reference
stated in
PubMed Central
reference URL
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Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse
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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
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PubMed Central
reference URL
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Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing
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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
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Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans
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Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
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Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila
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21 June 2018
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype
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PubMed Central
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Mutation of the PAX6 gene in patients with autosomal dominant keratitis
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Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene
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Pax-6, a murine paired box gene, is expressed in the developing CNS
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21 June 2018
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
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Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE
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1 reference
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reference URL
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Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques
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Motion integration across differing image features
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9138149
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Detection of BRCA1 mutations by the protein truncation test
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9138149
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9138149
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Protein truncation test (PTT) for rapid detection of translation-terminating mutations
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/9138149
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.34.4.279
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
PMC publication ID
1050912
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
PubMed publication ID
9138149
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050912
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
ResearchGate publication ID
14080578
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