Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American CLN2 affected individuals enabled the differentiation of two phenotypes: classical late-infantile and variant juvenile, each in a...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Kohan, Romina, Noelia Carabelos, María, Xin, Winnie, Sims, Katherine, Guelbert, Norberto, Adriana Cismondi, Inés, Pons, Patricia, Alonso, Graciela Irene, Troncoso, Mónica, Witting, Scarlet, Pearce, David A., de Kremer, Raquel Dodelson, Oller-Ramírez, Ana María, de Halac, Inés Noher
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3855401/
https://ncbi.nlm.nih.gov/pubmed/23266810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2012.12.058
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados