Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients
Background: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. Pathogenic mutations in HEXB gene were obser...
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Tehran University of Medical Sciences,
2012-03-01T00:00:00Z.
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