Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing
Ayca Kocaaga,
İrem Öztürk Aköz,
Nihal Ulus Demir
et al.
Abstract:SUMMARY
OBJECTIVE:
Retinitis pigmentosa is an inherited degenerative disorder causing severe retinal dystrophy and visual impairment, mainly with onset in the first or second decades. The next-generation sequencing has become an efficient tool to identify disease-causing mutations in retinitis pigmentosa. The aim of this retrospective study was to investigate novel gene variants and evaluate the utility of whole-exome sequencing in patients with retinitis pigmentosa.
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