Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
Abstract Background Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion. Methods Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2018-07-01
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| Col·lecció: | BMC Medical Genetics |
| Matèries: | |
| Accés en línia: | http://link.springer.com/article/10.1186/s12881-018-0632-7 |
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