A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
about
The IC3D classification of the corneal dystrophiesDensity of common complex ocular traits in the aging eye: analysis of secondary traits in genome-wide association studiesDevelopment of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutationsFirst identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophyUncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients.Genetics of anterior and stromal corneal dystrophies.Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.
P2860
Q24625598-89125511-EC38-4325-8401-6C1A33C1502EQ33346235-4763D8A6-2CE7-4CFA-8706-42F46A2F54E4Q34103212-1A7437A6-9DC2-4031-82BC-5B507E26E95BQ35007212-3DB2CCAD-8394-4B88-8E73-818493D195FCQ35435568-7C80290E-F647-4852-887B-EBA00FE597A7Q36601698-C31114BC-2238-4616-9E49-65DB90385535Q37063524-BE301023-5C97-4ED1-A0A4-B124A8F61528Q38752233-DD7494B2-07FF-497E-A1BB-730613CC0297Q42410118-0145368F-64D0-4191-879A-E189E2915ACCQ42781100-754AA80A-6FD3-4A48-A846-8C4298B92BAE
P2860
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@ast
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@en
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@nl
type
label
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@ast
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@en
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@nl
prefLabel
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@ast
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@en
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@nl
P2093
P356
P1433
P1476
A subset of patients with epit ...... have mutations in TGFBI/BIGH3.
@en
P2093
Daniel F Schorderet
Francis L Munier
Janet Sinton
John E Moore
Laurent Laroche
Marc Abitbol
Maurice Menasche
Sandrine Boutboul
P304
P356
10.1002/HUMU.20331
P50
P577
2006-06-01T00:00:00Z