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http://purl.uniprot.org/citations/14735064http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/14735064http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/14735064http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by progressive central haze, confluent punctate opacities and abnormal deposits in the cornea. It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, encoding corneal N-acetyl glucosamine-6-O-sulfotransferase (C-GlcNAc-6-ST). We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations.

Methods

Genomic DNA was isolated from peripheral blood leukocytes of patients with MCD and normal controls. The coding regions of the CHST6 gene were amplified using three pairs of primers and amplified products were directly sequenced.

Results

We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD, supporting the conclusion that loss of function of this gene is responsible for this corneal disease. Seventeen of these mutations are novel.

Conclusions

These data highlight the allelic heterogeneity of macular corneal dystrophy in Indian patients."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Balasubramanian D."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Balasubramanian D."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Sultana A."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Sultana A."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Klintworth G.K."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Klintworth G.K."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Kannabiran C."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Kannabiran C."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Sridhar M.S."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Sridhar M.S."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Jagannathan A."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/author"Jagannathan A."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/date"2003"xsd:gYear
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/date"2003"xsd:gYear
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/name"Mol. Vis."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/name"Mol. Vis."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/pages"730-734"xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/pages"730-734"xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/title"Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/title"Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India."xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/volume"9"xsd:string
http://purl.uniprot.org/citations/14735064http://purl.uniprot.org/core/volume"9"xsd:string
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