Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Sandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 mutations of HEXB have been described, including 3 large deletions. Here, we have characterized 14 unrelated SD patients and developed a Multiplex Ligation-dependent Probe Amplification (MLPA) assay to in...

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Main Authors: Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0041516&type=printable
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