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Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
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 out in...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6032535/ https://ncbi.nlm.nih.gov/pubmed/29973161 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0632-7 |
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