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

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

Abstract 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 approximat...

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Bibliographic Details
Main Authors: Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Neurology
Subjects:
PPT1
TPP1
Batten disease
Neuronal ceroid lipofuscinoses (NCL)
Online Access:http://link.springer.com/article/10.1186/s12883-018-1206-1

Internet

http://link.springer.com/article/10.1186/s12883-018-1206-1

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