Article
Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.
Molecular vision - 29 Dec 2010
Pandaranayaka P J Eswari, Prasanthi N, Kannabiran N, Rangachari K, Dhivya M, Krishnadas Subbiah R, Sundaresan P, Krishnaswamy S
Abstract excerpt
PURPOSE: To examine the possible role of alternate splicing leading to aggregation of myocilin in primary open-angle glaucoma. METHODS: Several single nucleotide variations found in the myocilin (MYOC) genomic region were collected and examined for their possible role in causing splice-site alterations. A model for myocilin built using a knowledge-based consensus method was used to map the altered protein...
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