Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis
about
The IC3D classification of the corneal dystrophiesTGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIpA novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).Molecular description of eye defects in the zebrafish Pax6b mutant, sunrise, reveals a Pax6b-dependent genetic network in the developing anterior chamber.A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)Genetics of anterior and stromal corneal dystrophies.Genomic approaches in the identification of hypoxia biomarkers in model fish species.Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI.De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.Mouse genetic corneal disease resulting from transgenic insertional mutagenesis.BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.
P2860
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P2860
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@ast
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@en
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@nl
type
label
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@ast
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@en
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@nl
prefLabel
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@ast
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@en
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@nl
P2093
P2860
P1433
P1476
Heterogeneity in granular corn ...... ns for corneal amyloidogenesis
@en
P2093
P2860
P304
P356
10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W
P407
P577
1999-01-01T00:00:00Z