Article
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.
Molecular vision - 10 Mar 2006
Klintworth Gordon K, Smith Clayton F, Bowling Brandy L
Abstract excerpt
PURPOSE: To evaluate mutations in the carbohydrate sulfotransferase-6 (CHST6) gene in American subjects with macular corneal dystrophy (MCD). METHODS: We analyzed CHST6 in 57 patients from 31 families with MCD from the United States, 57 carriers (parents or children), and 27 unaffected blood relatives of affected subjects. We compared the observed nucleotide sequences with those found by numerous investigators in...
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