Article
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
Clinical genetics - 1 Sept 1998
Zhong N, Wisniewski K E, Hartikainen J, Ju W, Moroziewicz D N, McLendon L, Sklower Brooks S S, Brown W T
Abstract excerpt
Late infantile neuronal ceroid lipofuscinosis (LINCL) is one of the most common pediatric neuronal degenerative disorders. A candidate gene underlying this disease, designated CLN2, was recently cloned and the gene product was characterized as a lysosomal pepstatin-insensitive carboxypeptidase (LPIC). Four mutations were identified in CLN2 from three unrelated LINCL individuals. To investigate further the...
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