| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5906759 | Gene | 2013 | 8 Pages |
Abstract
⺠CLN2 is the most frequent neuronal ceroid lipofuscinosis in South America. ⺠Two CLN2 groups have been recognized: I-null TPP1 activity; II-residual TPP1 activity. ⺠The variant juvenile phenotype comprises approximately 50% of CLN2 in South America. ⺠Slight residual TPP1 activity had an effect on the attenuation of the phenotype. ⺠The five most frequent South American mutations comprise 66% of pathological alleles.
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Authors
Romina Kohan, MarÃa Noelia Carabelos, Winnie Xin, Katherine Sims, Norberto Guelbert, Inés Adriana Cismondi, Patricia Pons, Graciela Irene Alonso, Mónica Troncoso, Scarlet Witting, David A. Pearce, Raquel Dodelson de Kremer, Ana MarÃa Oller-RamÃrez,