Avtor/Urednik     Sajovic, Jana; Meglič, Andrej; Corradi, Zelia; Khan, Mubeen; Cremers, Frans; Dhaenens, Claire-Marie; Jarc-Vidmar, Martina; Glavač, Damjan; Maver, Aleš; Volk, Marija; Peterlin, Borut; Hawlina, Marko; Fakin, Ana
Naslov     Insights into the pathogenesis of Stargardt disease associated with splicing mutation c.5714+5G>A in ABCA4 gene
Tip     članek
Vir     In: ESHG 2021 - virtual conference [S. l.] : European Society of Human Genetics
Leto izdaje     2021
Jezik     eng
Proste vsebinske oznake     Stargardtova bolezen
patogeneza
mutacije
Stargardt disease
pathogenesis
mutations