Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy

Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy

Item
http://www.wikidata.org/entity/Q28285972
Corneal dystrophiesCorneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosomeHeterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesisA novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layerPhenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI geneAn atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.Genetics of anterior and stromal corneal dystrophies.Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy.Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.
P2860

Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy

Item
http://www.wikidata.org/entity/Q28285972
description
1998 nî lūn-bûn
@nan
1998 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հոտեմբերին 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
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@ast
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@en
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@nl
type
label
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@ast
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@en
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@nl
prefLabel
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@ast
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@en
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@nl
P1433
P1476
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P698
P3181
P356
P1433
P1476
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy
@en
P2093
P304
P31
P3181
P356
10.1016/S0002-9394(98)00135-4
P407
P433
P478
P577
P698