Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis
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DOI: 10.1016/j.clineuro.2018.02.011
Abstract: OBJECTIVES Gangliosidosis is an inherited metabolic disorder causing neurodegeneration and motor regression. Preventive diagnosis is the first choice for the affected families due to lack of straightforward therapy. Genetic studies could confirm the diagnosis and… read more here.
Keywords: diagnosis; hexb; analysis; genotype ... See more keywords