Variant: rs121917822 

    present in Gene: CHST6
    present in Chromosome: 16
    Position on Chromosome: 75479525
    Alleles of this Variant: A/C

rs121917822 in CHST6 gene and Macular dystrophy, corneal type 1 PMID 15013869 2004 Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

PMID 19365571 2009 Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.

PMID 15652851 2005 Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

PMID 21242781 2011 Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.

PMID 14735064 2003 Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.

PMID 26604660 2015 Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.

PMID 14609920 2003 Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.

PMID 24311932 2013 A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.

PMID 11818380 2002 Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

PMID 12218059 2002 Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate.

PMID 14984470 2004 Novel mutations in the CHST6 gene causing macular corneal dystrophy.

PMID 11139648 2000 Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.

PMID 12883341 2003 Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.

PMID 12882775 2003 Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.

PMID 11017086 2000 Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.

PMID 12882769 2003 Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.

PMID 12824236 2003 Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.