A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
about
The IC3D classification of the corneal dystrophiesDifferential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and agingA novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.TGFBI gene mutations in a Korean population with corneal dystrophyGenotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutationsCorneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.Unique TGFBI protein in lattice corneal dystrophy.Anterior segment dysgenesis after overexpression of transforming growth factor-beta-induced gene, beta igh3, in the mouse eye.Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene.Genetics of anterior and stromal corneal dystrophies.Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene.Role of TGFBIp in Wound Healing and Mucin Expression in Corneal Epithelial Cells.Mutational spectrum of Korean patients with corneal dystrophy.Construction of eukaryotic plasmid expressing human TGFBI and its influence on human corneal epithelial cells.Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality.
P2860
Q24625598-F1233837-697D-4075-8068-38F02DB3DE14Q33507466-4A8BEDE6-96CF-4EF5-BC0C-7015F4B35344Q33814084-62C487CA-B468-477C-AC4A-3269B6BBC864Q34166110-201CA644-C455-4124-AD90-B746B2DF8812Q34372236-85150F5C-1B4F-43DB-A2A1-24A91ABB9DCFQ35007212-7F758557-99FE-4776-9744-22981B6F209EQ35314781-0BB76BCA-175C-4408-89FF-E6537BE3B18BQ35591115-6B78124B-9648-4ECB-95C9-EF5720106450Q35660243-2CF52A5C-7945-4B6A-A5DC-636A9DA25C41Q36342390-D409D250-F3BF-4393-93CD-3B181AEA0F50Q36499367-663FDEFE-E813-412B-B32E-92AD88CFFAB1Q37063524-2FFFB54A-E677-4473-99D4-34E47BA3171AQ37198222-7DC2932C-2851-4C80-B703-F5D257FACDB1Q37555466-F5A289C8-E13A-4DB1-BE06-6F93AD2B097EQ37622176-65E35348-2D95-4F93-A42E-9FB99EAC2617Q40989036-EEB33BE5-CEBF-42C7-BE41-44A018F4C154Q41826864-9D0535A9-8D01-4259-8F85-C158DBD0F7C8Q43007097-49CA4C76-1A9B-427C-9AEF-BFD8394A079EQ44188680-76784438-71CE-4B72-B59B-A7F1573E9F24Q46663082-8C16DA4C-4E85-4263-AD2C-5C0BAC88B6A2Q54395063-7BFE55FA-94B5-49CE-B845-8DC4C170F79D
P2860
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A new L527R mutation of the be ...... hy with deep stromal opacities
@ast
A new L527R mutation of the be ...... hy with deep stromal opacities
@en
A new L527R mutation of the be ...... hy with deep stromal opacities
@nl
type
label
A new L527R mutation of the be ...... hy with deep stromal opacities
@ast
A new L527R mutation of the be ...... hy with deep stromal opacities
@en
A new L527R mutation of the be ...... hy with deep stromal opacities
@nl
prefLabel
A new L527R mutation of the be ...... hy with deep stromal opacities
@ast
A new L527R mutation of the be ...... hy with deep stromal opacities
@en
A new L527R mutation of the be ...... hy with deep stromal opacities
@nl
P2093
P356
P1433
P1476
A new L527R mutation of the be ...... hy with deep stromal opacities
@en
P2093
P2888
P304
P356
10.1007/S004390050818
P407
P577
1998-09-01T00:00:00Z
P6179
1027160525