Browsing Çocuk Sağlığı Enstitüsü Makale Koleksiyonu by Subject "Insertion mutation"
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Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome
(Springer, 2012)Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ...