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Title: Unverricht–lundborg disease: report of a new mutation
Author: Freitas, Joel
Pinto, Eugénia
Duarte, A.J.
Amaral, Olga
Chaves, Joao
Lopes-Lima, J.
Keywords: Doenças Genéticas
Genetic Disease
Issue Date: Aug-2011
Publisher: Wiley-Blackwell
Citation: Epilepsia. 2011;52(Suppl. 6):97
Abstract: P301: Unverricht-Lundborg disease is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations, with cystatin B loss of function, have been described as the major cause of this disease.
Description: AJD e DR: bolseiros FCT.
Peer review: yes
ISSN: 0013-9580
Publisher Version:
Appears in Collections:DGH - Posters/abstracts em congressos internacionais

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