H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people (Q35591115)

9 August 2017

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people (English)

1 reference

lattice corneal dystrophy

9 August 2017

1 reference

Chau HM

1

1 reference

9 August 2017

Ha NT

2

1 reference

9 August 2017

Cung LX

3

1 reference

9 August 2017

Thanh TK

4

1 reference

9 August 2017

Fujiki K

5

1 reference

9 August 2017

Murakami A

6

1 reference

9 August 2017

Kanai A

7

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 June 2003

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British Journal of Ophthalmology

9 August 2017

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9 August 2017

87

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9 August 2017

6

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9 August 2017

686-689

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Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

Advances in the molecular genetics of corneal dystrophies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

Fluorescence detection in automated DNA sequence analysis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

Lectin binding sites in normal, scarred, and lattice dystrophy corneas

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

A general method for isolation of high molecular weight DNA from eukaryotes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

DNA sequencing with chain-terminating inhibitors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

Clinical, histopathologic, and ultrastructural characteristics of BIGH3(TGFBI) amyloid corneal dystrophies are supportive of the existence of a new type of LCD: the LCDi.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771727

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

26 September 2018

1 reference

12 December 2020

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies

1 reference

12 December 2020

Clinical features of a newly recognized type of lattice corneal dystrophy

1 reference

12 December 2020

Lattice corneal dystrophy type IIIA. Clinical and histopathologic correlations

1 reference

12 December 2020

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

12 December 2020

BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.87.6.686

1 reference

9 August 2017

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9 August 2017

1 reference