A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
about
The IC3D classification of the corneal dystrophiesHeterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesisA novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.TGFBI gene mutations in a Korean population with corneal dystrophyDifferential occurrence of mutations causative of eye diseases in the Chinese population.Genotype-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.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.Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.Denaturation and solvent effect on the conformation and fibril formation of TGFBIp.Mutational spectrum of Korean patients with corneal dystrophy.Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophyHomozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci
P2860
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P2860
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
description
1998 nî lūn-bûn
@nan
1998 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մարտին 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 kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@ast
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@en
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@nl
type
label
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@ast
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@en
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@nl
prefLabel
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@ast
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@en
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@nl
P2093
P356
P1476
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
@en
P2093
H Kurahashi
H Watanabe
M Tsujikawa
S Kinoshita
S Yamamoto
Y Nakamura
Y Shimomura
P304
P356
10.1086/301765
P407
P577
1998-03-01T00:00:00Z