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

Autor: Menghini, Moreno1,2 (AUTHOR) moreno.menghini@me.com, Cehajic-Kapetanovic, Jasmina1,2 (AUTHOR), Yusuf, Imran H.1,2 (AUTHOR), MacLaren, Robert E.1,2 (AUTHOR)
Zdroj: Ophthalmic Genetics. Dec2019, Vol. 40 Issue 6, p545-548. 4p.
Databáze: Academic Search Ultimate