Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India

Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India

Item
http://www.wikidata.org/entity/Q28183213
The IC3D classification of the corneal dystrophiesMatrix morphogenesis in cornea is mediated by the modification of keratan sulfate by GlcNAc 6-O-sulfotransferase.Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.Novel mutations of CHST6 in Iranian patients with macular corneal dystrophyA case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.Structural collagen alterations in macular corneal dystrophy occur mainly in the posterior stroma.An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation.Molecular genetic analysis of macular corneal dystrophy patients from North India.
P2860

Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India

Item
http://www.wikidata.org/entity/Q28183213
description
2003 nî lūn-bûn
@nan
2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@ast
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@en
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@nl
type
label
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@ast
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@en
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@nl
prefLabel
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@ast
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@en
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Novel mutations in the CHST6 g ...... al dystrophy in southern India
@en
P2093
P304
P31
P356
10.1001/ARCHOPHT.121.11.1608
P407
P433
P478
P577
P698
P921