Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Published 2012 View Full Article

Authors

Keywords

Mutation, Mutation detection, Nonsense mutation, Polymerase chain reaction, Deletion mutation, Ligation assay, Immunoprecipitation, Reverse transcriptase-polymerase chain reaction

Journal

PLoS One

Volume 7, Issue 7, Pages e41516

Publisher

Public Library of Science (PLoS)

Online

2012-07-28

DOI

10.1371/journal.pone.0041516

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