Three autosomal dominant corneal dystrophies map to chromosome 5q
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Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosomeMutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophyThe IC3D classification of the corneal dystrophiesLinkage of a gene for macular corneal dystrophy to chromosome 16Kerato-epithelin mutations in four 5q31-linked corneal dystrophiesA novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layerGranular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIpMolecular genetics of Chinese families with TGFBI corneal dystrophies.Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).Combined granular-lattice ('Avellino') corneal dystrophy.Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.Differential occurrence of mutations causative of eye diseases in the Chinese population.Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3.Apolipoproteins J and E co-localise with amyloid in gelatinous drop-like and lattice type I corneal dystrophies.Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1qAccumulation of beta ig-h3 gene product in corneas with granular dystrophy.A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly expressed in the epithelium of human granular and lattice type I corneal dystrophies.Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) geneGenetics of anterior and stromal corneal dystrophies.Combined granular lattice dystrophy (Avellino corneal dystrophy)Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings.A unique TGFBI protein in granular corneal dystrophy types 1 and 2.TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies.Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy.Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.TGFBI gene mutations in Brazilian patients with corneal dystrophy.Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic NeuropathyExclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci
P2860
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P2860
Three autosomal dominant corneal dystrophies map to chromosome 5q
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Three autosomal dominant corneal dystrophies map to chromosome 5q
@ast
Three autosomal dominant corneal dystrophies map to chromosome 5q
@en
Three autosomal dominant corneal dystrophies map to chromosome 5q
@nl
type
label
Three autosomal dominant corneal dystrophies map to chromosome 5q
@ast
Three autosomal dominant corneal dystrophies map to chromosome 5q
@en
Three autosomal dominant corneal dystrophies map to chromosome 5q
@nl
prefLabel
Three autosomal dominant corneal dystrophies map to chromosome 5q
@ast
Three autosomal dominant corneal dystrophies map to chromosome 5q
@en
Three autosomal dominant corneal dystrophies map to chromosome 5q
@nl
P2093
P2860
P356
P1433
P1476
Three autosomal dominant corneal dystrophies map to chromosome 5q
@en
P2093
Gorevic PD
Holland EJ
Krachmer JH
Mathers WD
Nichols BE
Rosenwasser GO
P2860
P2888
P356
10.1038/NG0194-47
P407
P577
1994-01-01T00:00:00Z