Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
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ABSTRACT:
SUBMITTER: Ravesh Z
PROVIDER: S-EPMC6197863 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
Ravesh Zeinab Z Dianatpour Mahdi M Fardaei Majid M Taghdiri Maryam M Hashemi-Gorji Feyzollah F Yassaee Vahid Reza VR Miryounesi Mohammad M
Molecular vision 20181019
<h4>Purpose</h4>The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families.<h4>Methods</h4>Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases and software.<h4>Results</h4>Based on the selected strategies, we identified potentially causative variants in five families with HRDs: the novel homozygous deletion mutation c.586_589del ...[more]
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