Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Iman G MahmoudMohamed A ElmonemNour M ElkhateebWalaa ElnaggarAhmed SobhiMarian Y GirgisMona KamelYara ShaheenMona SamahaAreef RamadanMaha Saad ZakiBahaa El-HawarySawsan A HassanIman A KhalifaFawzya MossadNihal M Al-MenabawySusanne ZielkeJoseph G GleesonArndt RolfsLaila A SelimPublished in: Clinical genetics (2019)