A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course

Author:

Åberg Laura,Lauronen Leena,Hämäläinen Janne,Mole Sara E.,Autti Taina

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference16 articles.

1. Isolation of a novel gene underlying Batten disease, CLN3;Cell,1995

2. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) [Erratum in: Hum Mol Genet 1999;8:1585];Järvelä;Hum Mol Genet,1999

3. CLN3 mutations. In: Mole SE, editor. NCL mutation database [Internet]. Accessed June 13, 2008. Available at: http://www.ucl.ac.uk/ncl/cln3.

4. Rapid diagnostic test for the major mutation underlying Batten disease;Järvelä;J Med Genet,1996

5. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis;Kitzmuller;Hum Mol Genet,2008

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