Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy
about
Corneal dystrophiesCharacterization of a 190-kilobase pair domain of human type I hair keratin genesThe 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 dystrophyA novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophyThe functional importance of disease-associated mutationConditional deletion of the mouse Klf4 gene results in corneal epithelial fragility, stromal edema, and loss of conjunctival goblet cellsIdentification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.Transforming growth factor β receptor type 1 is essential for female reproductive tract integrity and function.BodyMap: a collection of 3' ESTs for analysis of human gene expression information.Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin.Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus HeterogeneityMeesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.Keratin expression in human tissues and neoplasms.In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.Keratins and skin disorders.Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophySevere Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlationGenetics of anterior and stromal corneal dystrophies.Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese.A novel mutation in KRT12 associated with Meesmann's 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
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@ast
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@en
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@nl
type
label
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@ast
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@en
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@nl
prefLabel
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@ast
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@en
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@nl
P2093
P2860
P356
P1476
Isolation and chromosomal loca ...... n corneal epithelial dystrophy
@en
P2093
A J Quantock
H Hosotani
S Kawasaki
S Kinoshita
S Yamamoto
T Nakamura
P2860
P304
P356
10.1086/301650
P407
P577
1997-12-01T00:00:00Z