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...

Descripción completa

Detalles Bibliográficos
Autores principales: Aryan, H, Aryani, O, Banihashemi, K, Zaman, T, Houshmand, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481711/
https://www.ncbi.nlm.nih.gov/pubmed/23113155

Ejemplares similares

Ejemplares similares