Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland

Advances in gene therapy and genome editing give hope that new treatments will soon be available for inherited eye diseases that together affect a significant proportion of the adult population. New solutions are needed to make genetic diagnosis fast and affordable. This is the first study of such a...

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Auteurs principaux:	Ewa Matczyńska, Marta Beć-Gajowniczek, Larysa Sivitskaya, Elżbieta Gregorczyk, Przemysław Łyszkiewicz, Robert Szymańczak, Maria Jędrzejowska, Edward Wylęgała, Maciej R. Krawczyński, Sławomir Teper, Anna Boguszewska-Chachulska
Format:	Artigo
Langue:	Inglês
Publié:	MDPI AG 2024-06-01
Collection:	Biomedicines
Sujets:	inherited retinal diseases retinal dystrophy inherited optic neuropathy multi-gene NGS IRD panel multi-gene NGS inherited optic neuropathy panel Central and Eastern Europe
Accès en ligne:	https://www.mdpi.com/2227-9059/12/6/1355
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