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Detection of Novel Mutations that Cause Autosomal Dominant Retinitis Pigmentosa in Candidate Genes

Published: Tuesday, April 09, 2013
Last Updated: Tuesday, April 09, 2013
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In current clinical practice, sequencing of candidate genes involved in a disease in individual patient samples is becoming increasingly important.

Purpose of this study was to devise an effective method for detecting mutations in 12 genes commonly associated with autosomal dominant retinitis pigmentosa (adRP) that account for more than 95% of known mutations.

This study was published online in Molecular Vision and is free to access.


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