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GenEye24: Novel Rapid Screening Test for the Top-3 Leber's Hereditary Optic Neu...
Martins, Sara; Santos, Maria João; Teixeira, Márcia; Diogo, Luisa; Macário, Maria do Carmo; Pedro Marques, João; Fonseca, Pedro; Grazina, ManuelaLeber's Hereditary Optic Neuropathy (LHON) has been mainly (90-95%) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics decision. It relies on real-time PCR with High-Resolution Melting (HRM) analysis. Variant classification is made using HRM Software and quality controls. Ninety-four samples were an...
Date: 2023
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Origin: Estudo Geral - Universidade de Coimbra