A carregar...
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...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Tehran University of Medical Sciences
2012
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3481711/ https://ncbi.nlm.nih.gov/pubmed/23113155 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|