(Q36744471)

16 August 2017

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families (English)

1 reference

lattice corneal dystrophy

16 August 2017

1 reference

1 reference

Zhe Liu

1

1 reference

16 August 2017

Yi-qiang Wang

series ordinal

2

1 reference

16 August 2017

Qing-hua Gong

series ordinal

3

1 reference

16 August 2017

Li-xin Xie

series ordinal

4

1 reference

16 August 2017

30 June 2008

1 reference

16 August 2017

1 reference

16 August 2017

14

1 reference

16 August 2017

1234-1239

1 reference

TGFBI gene mutations in corneal dystrophies.

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

The molecular genetics of the corneal dystrophies--current status

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

Mutation hot spots in 5q31-linked corneal dystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

BIGH3 mutation spectrum in corneal dystrophies

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

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

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443752

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

20 October 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

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

1 reference

12 December 2020

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene

1 reference

12 December 2020

R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

16 August 2017

PubMed publication ID

18615206

1 reference