Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
about
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)A 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 TGFBIpTGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literatureLinkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.TGFBI gene mutations in a Korean population with corneal dystrophyThe TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotypeTGFB1-induced extracellular expression of TGFBIp and inhibition of TGFBIp expression by RNA interference in a human corneal epithelial cell line.Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.Molecular bases of corneal endothelial dystrophies.Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients.pH Induced Conformational Transitions in the Transforming Growth Factor β-Induced Protein (TGFβIp) Associated Corneal Dystrophy Mutants.Keratoconus associated with corneal stromal amyloid deposition containing TGFBIp.Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation.Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI.TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation.Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20.Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).
P2860
Q21202905-4B743340-5F49-45D2-995D-84F41E47B4BFQ33363577-663731D6-6D30-4E06-BE95-6F7CFFAE4558Q33653216-7D92B9B5-81CA-415B-9F01-BA36B16B22A4Q33677670-21193DBF-E40E-4623-9BB4-1367AAA16A4DQ33814084-9E6BA7A1-0316-4C3A-9D7F-A6B910D64883Q33980596-D2A97F9A-9E49-48F7-8469-E4B09437678AQ34022571-59FAA7EF-363F-475F-878D-6694DB399E34Q34372236-7B15221B-54E5-416C-AF65-E4537FDC1FE4Q34511291-B1510A24-2C06-4644-B745-9BBA4A209944Q34645664-6A6823CE-B8AB-4FA5-9718-F2DCC5913454Q35332114-2E625C79-1155-447A-82E5-5AB10D6FEC8BQ35739942-369D10A7-D28E-4B5A-B754-AF9F77706EFFQ36601698-D3B4C9D7-9BF1-493C-B93F-5BCF40F643DAQ36748354-95EA2B39-B191-4984-842C-2CE6DE30E9B2Q37286943-4A98DDDE-3B1B-4FB8-813E-230EE2DB31E2Q41960539-773448A9-C084-4A8A-A029-71918F7DCFA0Q42124546-FFADE383-36B7-4D0C-A817-DBD63FCFE366Q44660434-3C3D576D-1A42-43B0-B3F5-0FD4757CBD92Q46010065-8DDC67D3-C550-45F2-BCCD-FA2FA6BB395DQ46272716-D012E72F-61C4-4351-A0E3-DB1126375CC0Q46740948-32AC89E6-F720-4E1E-A2C3-091799C900F0Q47207538-5ACBBCCD-6938-4ED8-94C6-67F5D6F80C7A
P2860
Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
@ast
Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
@en
type
label
Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
@ast
Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
@en
prefLabel
Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
@ast
Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
@en
P1433
P1476
Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?
@en
P2093
Anthony J Aldave
Baris Sonmez
P304
P356
10.1001/ARCHOPHT.125.2.177
P407
P577
2007-02-01T00:00:00Z