Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 388, 15 May 2018, Pages 4-6

Tatsuhiko Ozono, Makoto Kinoshita, Aya Narita, Asami Hirakiyama, Motomichi Kosuga, Torayuki Okuyama, Kei Fukada,