A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis.

Jineesh Thottath Shamsudheen Karuthedath Vellarikkal Rijith Jayarajan Ankit Verma Manu Manamel Archana Singh V Raman Rajendran Sridhar Sivasubbu Vinod Scaria

Neurol Genet

Department of Radiodiagnosis (J.T., M.M., V.R.R.), Government Medical College, Kozhikode, Medical College PO, Kozhikode, Kerala 673008, India; Genomics and Molecular Medicine Unit (S.K.V., R.J., A.V., A.S., S.S.), CSIR Institute of Genomics and Integrative Biology; Academy of Scientific and Innovative Research (AcSIR) (S.K.V., S.S., V.S.), CSIR-IGIB South Campus; and GN Ramachandran Knowledge Center for Genome Informatics (V.S.), CSIR Institute of Genomics and Integrative Biology, Delhi, India.

Published: June 2019

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481222	PMC
http://dx.doi.org/10.1212/NXG.0000000000000302	DOI Listing

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