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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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Detalles Bibliográficos
Autores principales:	Sheth, Jayesh, Mistri, Mehul, Mahadevan, Lakshmi, Mehta, Sanjeev, Solanki, Dhaval, Kamate, Mahesh, Sheth, Frenny
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032535/ https://www.ncbi.nlm.nih.gov/pubmed/29973161 http://dx.doi.org/10.1186/s12881-018-0632-7

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