Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in theCYP27A1gene associated with premature age-associated limbic tauopathy

التفاصيل البيبلوغرافية
العنوان: Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in theCYP27A1gene associated with premature age-associated limbic tauopathy
المؤلفون: Mariann Harangi, Mária Judit Molnár, Z. Kóczi, Günther Regelsberger, Istvan Kapas, Gabor G. Kovacs, György Paragh, Mónika Katkó, Istvan Balogh
المصدر: Neuropathology and Applied Neurobiology
سنة النشر: 2014
مصطلحات موضوعية: Genetics, Histology, business.industry, medicine.disease, Cerebrotendinous Xanthomatosis, Pathology and Forensic Medicine, Neurology, Physiology (medical), Mutation (genetic algorithm), CYP27A1, Medicine, Neurology (clinical), Tauopathy, business, Gene
اللغة: English
تدمد: 0305-1846
DOI: 10.1111/nan.12058
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89eacef5e74e0f43a49906bed57cf86c
حقوق: CLOSED
رقم الأكسشن: edsair.doi.dedup.....89eacef5e74e0f43a49906bed57cf86c
قاعدة البيانات: OpenAIRE
الوصف
تدمد:03051846
DOI:10.1111/nan.12058