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Natural disease course in Usher syndrome patients harboring USH2A variant p.cys870* in exon 13, amenable to exon skipping therapy
Katja Čadonič, Jana Sajovic, Marko Hawlina, Ana Fakin, Ana Fakin
Izvirni znanstveni članek
Oznake: Usherjev sindrom;USH2A;pigmentni retinitis;avtofluorescenčni fundus;preskok terapije exon;Usher syndrome;retinitis pigmentosa;fundus autofluorescence;exon skipping therapy;
The aim of the study was to determine the rate of retinal degeneration in patients with c.2610C>A (p.Cys870*) in USH2A exon 13, amenable to exon skipping therapy. There were nine patients from seven families, three of whom were male (two were homozygous). Seven patients had follow-up data (median of ...
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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