Llwytho...
Three Novel Mutations in Iranian Patients with Tay-Sachs Disease
Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutat...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Pasteur Institute of Iran
2014
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3933921/ https://ncbi.nlm.nih.gov/pubmed/24518553 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6091/ibj.1137.2013 |
| Tagiau: |
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