Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: CLN5[original query] |
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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain : a journal of neurology 2009 Mar 132 (Pt 3): 810-9. Kousi Maria, Siintola Eija, Dvorakova Lenka, Vlaskova Hana, Turnbull Julie, Topcu Meral, Yuksel Deniz, Gokben Sarenur, Minassian Berge A, Elleder Milan, Mole Sara E, Lehesjoki Anna-Eli |
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology 2010 Feb 74 (7): 565-71. Xin W, Mullen T E, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole S E, Goebel H H, Sims |
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5. BMC medical genetics 2020 5 21 (1): 100. Li Wei, Fan Xin, Zhang Yue, Huang Limei, Jiang Tingting, Qin Zailong, Su Jiasun, Luo Jingrong, Yi Shang, Zhang Shujie, Shen Yipi |
A novel CLN5 mutation in Turkish patient with variant late-onset neuronal ceroid lipofuscinosis and recurrent fractures that causes severe morbidity. Neurocase 2021 10 27 (6): 437-440. Duz Mehmet Bugrah |
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- Page last updated:Apr 22, 2024
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