Ontology highlight
ABSTRACT:
SUBMITTER: Birtel J
PROVIDER: S-EPMC5859282 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Birtel Johannes J Eisenberger Tobias T Gliem Martin M Müller Philipp L PL Herrmann Philipp P Betz Christian C Zahnleiter Diana D Neuhaus Christine C Lenzner Steffen S Holz Frank G FG Mangold Elisabeth E Bolz Hanno J HJ Charbel Issa Peter P
Scientific reports 20180319 1
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing ...[more]