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Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations
Author(s) -
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.,
ElHawary Bahaa,
Hassan Sawsan A.,
Khalifa Iman A.,
Mossad Fawzya,
AlMenabawy Nihal M.,
Zielke Susanne,
Gleeson Joseph G.,
Rolfs Arndt,
Selim Laila A.
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13492
Subject(s) - medicine , pediatric neurology , clinical microbiology , family medicine , pediatrics , library science , biology , microbiology and biotechnology , computer science