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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Detalhes bibliográficos
Publicado no:BMC Neurol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6292089/
https://ncbi.nlm.nih.gov/pubmed/30541466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-018-1206-1
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