Başlık için Çocuk Sağlığı Enstitüsü Makale Koleksiyonu listeleme
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Retinitis Pigmentosa Caused By Mutations in the Ciliary MAK Gene is Relatively Mild and is not Associated with Apparent Extra-Ocular Features
(Wiley, 2015)Purpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our ...