Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
作者信息
Mahmoud Iman G, Elmonem Mohamed A, Elkhateeb Nour M, Elnaggar Walaa, Sobhi Ahmed, Girgis Marian Y, Kamel Mona, Shaheen Yara, Samaha Mona, Ramadan Areef, Zaki Maha S, El-Hawary Bahaa, Hassan Sawsan A, Khalifa Iman A, Mossad Fawzya, Al-Menabawy Nihal M, Zielke Susanne, Gleeson Joseph G, Rolfs Arndt, Selim Laila A
机构信息
Pediatric Neurology Department, Cairo University, Cairo, Egypt.
Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt.
出版信息
Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11.
PMID:30633340
Abstract
摘要
Zotero 插件