Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

Autor:	Irene Toldo, Sara Rossato, Stefano Sartori, Michael Przybylski, Francesco Pezzini, Stefano Doccini, Stefan Maeser, Filippo M. Santorelli, Francesca Moro, Alessandro Simonati
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	0301 basic medicine Pathology medicine.medical_specialty Infantile neuronal ceroid lipofuscinosis cathepsin D Cathepsin D Disease Biology 03 medical and health sciences neuronal ceroid lipofuscinoses novel mutation childhood early onset encephalopathies 0302 clinical medicine Neuronal Ceroid-Lipofuscinoses Diagnosis medicine Humans Brain medicine.disease Phenotype 030104 developmental biology Neurology Differential Mutation Mutation (genetic algorithm) Cathepsin D deficiency Female Neurology (clinical) Novel mutation Diagnosis Differential 030217 neurology & neurosurgery
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3785f811102ec9e5f8d9fc0bb15b68 http://hdl.handle.net/11562/942957 Zobrazit plný text záznamu