Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 3 (of 3 Records)

Query Trace: Disease and CLN5[original query]
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 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
TOP