Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.

Autor: De Paolis, Elisa1,2 (AUTHOR) andrea.urbani@policlinicogemelli.it, Raspaglio, Giuseppina1,3 (AUTHOR) giuseppina.raspaglio@unicatt.it, Ciferri, Nunzia4 (AUTHOR) nunzia.ciferri01@icatt.it, Zangrilli, Ilaria1 (AUTHOR) ilaria.zangrilli@policlinicogemelli.it, Ricciardi Tenore, Claudio1 (AUTHOR) claudio.ricciarditenore@guest.policlinicogemelli.it, Urbani, Andrea2,5 (AUTHOR), Ferraro, Pietro Manuel6 (AUTHOR) pietromanuel.ferraro@univr.it, Minucci, Angelo1 (AUTHOR) angelo.minucci@policlinicogemelli.it, Concolino, Paola1,2 (AUTHOR) paola.concolino@policlinicogemelli.it
Zdroj: Journal of Clinical Medicine. Aug2024, Vol. 13 Issue 16, p4682. 11p.
Databáze: Academic Search Ultimate
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