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English
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
scientific article published in July 2004
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
title
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
main subject
Bangladesh
0 references
author
Alison Hardcastle
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
author name string
El-Ashry MF
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
Abd El-Aziz MM
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
Ficker LA
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
Bhattacharya SS
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
Ebenezer ND
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
publication date
1 July 2004
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
published in
Eye
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
volume
18
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
issue
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
page(s)
723-728
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
cites work
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation hot spots in 5q31-linked corneal dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Increased expression of fibrillin-1 in human corneas with bullous keratopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lattice or Reis-Bücklers Corneal Dystrophy: A Question of Stromal Pathology*
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Modifier genes of hereditary hearing loss
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.EYE.6701313
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
PubMed publication ID
15017378
1 reference
stated in
Europe PubMed Central
PubMed publication ID
15017378
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
ResearchGate publication ID
5385916
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