Autor/es: Antón-Martín P, Aparicio López C, Ramiro-León S, Santillán Garzón S, Santos-Simarro F and Gil-Fournier B.

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine
Pediatrics. 2012:6 41-49 doi: 10.4137/CMPed.S7509