Browsing by Author "Sağıroğlu, Mahmut Şamil"
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Whole-exome sequencing revealed two novel mutations in Usher syndrome
Koparır, Asuman; Karataş, Ömer Faruk; Atayoğlu, Ali Timuçin; Yüksel, Bayram; Sağıroğlu, Mahmut Şamil; Seven, Mehmet; Ulucan, Hakan; Yüksel, Adnan; Özen, Mustafa (Elsevier Science Bv., 2015)Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Since the associated genes are various and quite large, we ...