Next generation sequencing for rapid diagnosis of a rare early onset spastic paraplegia: A novel pathological variant in FA2H gene

Autor: González-González, M. Cristina, Gutierrez, Miriam, de la Mota, Cristina Castaño, Jareño, Nuria Muñoz, Gonzalez, Severino, Cava, Fernando
Zdroj: In Revista del Laboratorio Clinico October-December 2018 11(4):222-226
Databáze: ScienceDirect