Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

Item
http://www.wikidata.org/entity/Q34460009
The IC3D classification of the corneal dystrophiesA novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophyIdentification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotypeIdentification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.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.Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.
P2860

Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

Item
http://www.wikidata.org/entity/Q34460009
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@ast
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@en
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@nl
type
label
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@ast
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@en
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@nl
prefLabel
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@ast
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@en
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Novel mutations in the helix t ...... th Meesmann corneal dystrophy.
@en
P2093
P304
P31
P356
10.1097/01.ICO.0000159732.29930.26
P433
P478
P577
P698