Ontology highlight
ABSTRACT:
SUBMITTER: Liskova P
PROVIDER: S-EPMC2696796 | biostudies-literature | 2007 Jun
REPOSITORIES: biostudies-literature
Human mutation 20070601 6
We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be implicated in the pathogenesis of this disorder were screened by DNA sequencing. Four novel pathogenic mutations were identified in four families; two deletions, one nonsense, and one duplication within ...[more]