Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients.
about
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesisDifferential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and agingA novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.Differential occurrence of mutations causative of eye diseases in the Chinese population.Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty.Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2.pH Induced Conformational Transitions in the Transforming Growth Factor β-Induced Protein (TGFβIp) Associated Corneal Dystrophy Mutants.Effect of Light Scattering and Higher-order Aberrations on Visual Performance in Eyes with Granular Corneal Dystrophy.Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutationsGenetics of anterior and stromal corneal dystrophies.Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.TGFBI gene transcript is transforming growth factor-beta1-responsive and cell density-dependent in a human corneal epithelial cell line.Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.
P2860
Q28140672-8683336F-04E6-4A04-ACD5-C72AB8D04263Q33507466-7A1CBD9D-A87C-461E-919F-BA389006C01DQ33814084-F15802F4-5E82-4FB1-A65B-EDE4434A249BQ34540082-8A64CFE6-B3EC-4C6F-9FC7-16B75E89B04DQ34771660-53304A0F-9B91-4E48-9239-82ED3A9E063EQ35589556-480E1D14-7775-4879-B652-BEEC75371573Q35703556-916A0C96-C005-4FC6-9536-3E93F2061D49Q36748354-796289D4-0108-4050-AB4B-12323E08B8CFQ36806388-0E2F5D01-3264-41B5-BFA7-1265E5413904Q37054955-F6E934A0-822E-4D3A-9DB6-2DC128C469A0Q37063524-295E0BCB-355A-4D14-98D6-7676B640FB93Q37198222-F7B446C6-D386-44D9-BC47-7D998B6254D9Q40672881-B510CBA6-7431-407E-AA19-FC324A5EBA06Q43007097-D1BE3868-83B4-42C7-9562-6931457A1E1B
P2860
Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients.
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին 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
Severe form of juvenile cornea ...... ene in five Japanese patients.
@ast
Severe form of juvenile cornea ...... ene in five Japanese patients.
@en
type
label
Severe form of juvenile cornea ...... ene in five Japanese patients.
@ast
Severe form of juvenile cornea ...... ene in five Japanese patients.
@en
prefLabel
Severe form of juvenile cornea ...... ene in five Japanese patients.
@ast
Severe form of juvenile cornea ...... ene in five Japanese patients.
@en
P2093
P2860
P356
P1476
Severe form of juvenile cornea ...... ene in five Japanese patients.
@en
P2093
Nakamura Y
P2860
P304
P356
10.1136/BJO.82.11.1280
P407
P577
1998-11-01T00:00:00Z