Literature DB >> 30633340

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

Iman G Mahmoud1, Mohamed A Elmonem2, Nour M Elkhateeb1, Walaa Elnaggar1, Ahmed Sobhi1, Marian Y Girgis1, Mona Kamel1, Yara Shaheen1, Mona Samaha1, Areef Ramadan1, Maha S Zaki3, Bahaa El-Hawary4, Sawsan A Hassan1, Iman A Khalifa1, Fawzya Mossad1, Nihal M Al-Menabawy1, Susanne Zielke5,6, Joseph G Gleeson7, Arndt Rolfs5,6, Laila A Selim1.   

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Year:  2019        PMID: 30633340     DOI: 10.1111/cge.13492

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  1 in total

Review 1.  Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

Authors:  Berna Seker Yilmaz; Julien Baruteau; Ahad A Rahim; Paul Gissen
Journal:  Int J Mol Sci       Date:  2020-07-17       Impact factor: 5.923

  1 in total

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