Associated Papers
Clinical and genetic features of a case with juvenile onset sandhoff disease.
Yin JH et al.
Bmc Neurology, 2023
P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
Rahmani Z et al.
Metabolic Brain Disease, 2022
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
A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.
Wang SZ et al.
Molecular Genetics and Metabolism, 2008
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