(Q35314781)

7 August 2017

title

Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene (English)

1 reference

gelatinous drop-like corneal dystrophy

7 August 2017

main subject

1 reference

Hirano K

1

1 reference

7 August 2017

Hotta Y

series ordinal

2

1 reference

7 August 2017

Fujiki K

series ordinal

3

1 reference

7 August 2017

Kanai A

series ordinal

4

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 June 2000

1 reference

British Journal of Ophthalmology

7 August 2017

published in

1 reference

7 August 2017

volume

84

1 reference

7 August 2017

issue

6

1 reference

7 August 2017

page(s)

583-585

1 reference

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723504

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723504

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723504

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723504

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723504

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723504

Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723504

Three autosomal dominant corneal dystrophies map to chromosome 5q

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723504

Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX

26 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I

1 reference

12 December 2020

Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.84.6.583

1 reference

release_c2qhwx76vzcu5lnsitf3oplcry

7 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/c2qhwx76vzcu5lnsitf3oplcry

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1723504

1 reference

7 August 2017

1 reference