A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
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Corneal dystrophiesThe IC3D classification of the corneal dystrophiesA novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophyA novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophyIdentification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin.Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlationAllele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.
P2860
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P2860
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh
2002年學術文章
@zh-hant
name
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
@en
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
@nl
type
label
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
@en
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
@nl
prefLabel
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
@en
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
@nl
P2093
P2860
P50
P356
P1476
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
@en
P2093
C M Coleman
F J D Smith
J H McCarthy
O Swensson
S J Morgan
P2860
P304
P356
10.1136/BJO.86.7.729
P407
P577
2002-07-01T00:00:00Z