Konu "Retinitis pigmentosa" için Çocuk Sağlığı Enstitüsü Makale Koleksiyonu listeleme
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Dynamics of the Rhomboid-Like Protein Rhbdd2 Expression in Mouse Retina And Involvement of Its Human Ortholog in Retinitis Pigmentosa
(Amer Soc Biochemistry Molecular Biology Inc, 2013)The novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed ... -
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 ...