Associated Papers
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
Zampieri S et al.
Plos One, 2012
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