Report of two Cases of Tay–Sachs in Children of a Single Family
Abstract Background & aim: Tay–Sachs is a rare autosomal recessive and neurological disease caused by the accumulation of glycosphingolipid within cell lysosomes. Ganglioside accumulation is caused by a mutation in the beta-hexosaminidase (HEXA) gene and this mutation is reduced by...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Persa |
| Veröffentlicht: |
Yasuj University Of Medical Sciences
2019-07-01
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| Schriftenreihe: | Armaghane Danesh Bimonthly Journal |
| Schlagworte: | |
| Online-Zugang: | http://armaghanj.yums.ac.ir/article-1-2251-en.html |
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