(Q47961337)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

0 references

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

El-Ashry MF

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Abd El-Aziz MM

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Ficker LA

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Bhattacharya SS

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Ebenezer ND

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

1 July 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

723-728

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15017378%20AND%20SRC:MED&resulttype=core&format=json

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

25 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Mutation hot spots in 5q31-linked corneal dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Increased expression of fibrillin-1 in human corneas with bullous keratopathy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Lattice or Reis-Bücklers Corneal Dystrophy: A Question of Stromal Pathology*

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021

Modifier genes of hereditary hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6701313

7 January 2021