HIGHLIGHTS
- who: Maitane Ezquerra-Inchausti from the Study subjectsIRD patients were clinically diagnosed by the Ophthalmology Service at Donostia University have published the research: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies, in the Journal: (JOURNAL) of 19/02/2018
- what: The authors have developed a cost-effective method for the diagnosis of IRDs based on pooled genomic DNA targeted NGS, in combination with HRM as a highly sensitive, versatile and affordable genotyping method.
- how: To estimate the reduction in costs derived from the . . .
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