Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family

Autor: Gun Bilgic, Dilek, Gerik Celebi, Hamide Betul, Aydin Gumus, Aydeniz, Bilgic, Abdulkadir, Yazici, Havva, Ceylaner, Serdar, Yilmaz, Celil, Polat, Muzaffer, Akbal Sahin, Melike, Dereli, Fatma, Cam, Fethi Sirri
Zdroj: In Journal of Clinical Neuroscience December 2020 82 Part B:214-218
Databáze: ScienceDirect