Article
Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
Ophthalmic genetics - 1 Sept 2014
Shen Sherry, Sujirakul Tharikarn, Tsang Stephen H
Abstract excerpt
PURPOSE: To report the phenotypes caused by a novel mutation in the PDE6B gene in a family with two affected siblings and one affected cousin with a 2-year follow-up. DESIGN: Three patients from a family with a history of retinitis pigmentosa underwent clinical evaluations. The affected patients' DNA was analyzed using next-generation sequencing and segregation analyses were performed for the family. SETTING:...
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