Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

BACKGROUND: Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. Till date, nearly 76 mutations in PPT1 and approximately 140...

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Detalles Bibliográficos
Autores principales: Sheth, Jayesh, Mistri, Mehul, Bhavsar, Riddhi, Pancholi, Dhairya, Kamate, Mahesh, Gupta, Neerja, Kabra, Madhulika, Mehta, Sanjiv, Nampoothiri, Sheela, Thakker, Arpita, Jain, Vivek, Shah, Raju, 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/PMC6292089/
https://www.ncbi.nlm.nih.gov/pubmed/30541466
http://dx.doi.org/10.1186/s12883-018-1206-1

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