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...
Tallennettuna:
| Päätekijät: | , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Tehran University of Medical Sciences
2012-04-01
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| Sarja: | Iranian Journal of Public Health |
| Aiheet: | |
| Linkit: | http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/20507.pdf&manuscript_id=20507 |
| Tagit: |
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