The morphotype, and the residual TPP-1 enzyme activity correlate with the underlying mutations in theTPP1/CLN2gene of Neuronal Ceroid Lipofuscinoses Late Infantile and variant Juvenile
| Autor: | Noher de Halac, I, Pons, P, Carabelos, N, Guelbert, N, Dodelson de Kremer, R, Cismondi, IA, Alonso, GI, Oller-Ramirez, AM, Kohan, R |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN); 20120912-20120915; Erlangen; DOC12dgnnPP4.6 /20120911/ |
| DOI: | 10.3205/12dgnn083 |
| Popis: | CLN2 (OMIM #204500) is a children's neurodegenerative disorder resulting from a deficiency of the lysosomal enzyme Tripeptidyl-Peptidase-1 (TPP1) encoded by the geneTPP1/CLN2. Inheritance is autosomal recessive. The aim was to investigate the possible correlations among the clinical phenotypes[for full text, please go to the a.m. URL] 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN) |
| Databáze: | OpenAIRE |
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