Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.

Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.

Item
http://www.wikidata.org/entity/Q34172306
The 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.Molecular genetics of Chinese families with TGFBI corneal dystrophies.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.Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlationAutosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.
P2860

Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.

Item
http://www.wikidata.org/entity/Q34172306
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@ast
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@en
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@nl
type
label
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@ast
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@en
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@nl
prefLabel
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@ast
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@en
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Heterozygous Ala137Pro mutatio ...... Meesmann's corneal dystrophy.
@en
P2093
P304
P31
P356
10.1016/S0021-5155(02)00563-4
P433
P478
P577
P698