A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1

<br><strong>Background: </strong>Gene editing has shown huge potential in correcting aberrant splicing and Cas13 has been identified as being particularly suitable for targeting RNA. It has therefore become increasingly important to highlight new splice site mutations that may be c...

Полное описание

Библиографические подробности
Главные авторы: Menghini, M, Cehajic-Kapetanovic, J, Yusuf, IH, MacLaren, RE
Формат: Journal article
Язык:English
Опубликовано: Taylor & Francis 2019