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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Main Authors: Aryan, H, Aryani, O, Banihashemi, K, Zaman, T, Houshmand, M
Formato: Artigo
Idioma:Inglês
Publicado: Tehran University of Medical Sciences 2012
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3481711/
https://ncbi.nlm.nih.gov/pubmed/23113155
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