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Title : A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1 - Niida_2016_Brain.Dev_38_674 |
Author(s) : Niida Y , Yokoi A , Kuroda M , Mitani Y , Nakagawa H , Ozaki M |
Ref : Brain Dev , 38 :674 , 2016 |
Abstract : Niida_2016_Brain.Dev_38_674 |
ESTHER : Niida_2016_Brain.Dev_38_674 |
PubMedSearch : Niida_2016_Brain.Dev_38_674 |
PubMedID: 26846731 |
Gene_locus related to this paper: human-PPT1 |