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Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations

Iman G. Mahmoud,Mohamed A. Elmonem,Nour M. Elkhateeb,Walaa Elnaggar,Ahmed Sobhi,Marian Y. Girgis,Mona Kamel,Yara Shaheen,Mona Samaha,Areef Ramadan,Maha S. Zaki, Bahaa El-Hawary,Sawsan A. Hassan,Iman A. Khalifa,Fawzya Mossad,Nihal M. Al-Menabawy,Susanne Zielke,Joseph G. Gleeson,Arndt Rolfs,Laila A. Selim

CLINICAL GENETICS（2019）

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