A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.

Yu, Feng; Liu, Xiao-Min; Chen, Yin-He; Zhang, Sheng-Quan; Wang, Kai

Yu, Feng; Liu, Xiao-Min; Chen, Yin-He; Zhang, Sheng-Quan; Wang, Kai.

Afiliação

Yu F; Department of Neurology, The Affiliated Provincial Hospital of Anhui Medical University, No. 17, Lujiang Road, Hefei, 230022, China.
Liu XM; Department of Neurology, The Affiliated Provincial Hospital of Anhui Medical University, No. 17, Lujiang Road, Hefei, 230022, China.
Chen YH; Department of Orthopedic Surgery, The Affiliated Fuyang Hospital of Anhui Medical University, No. 17, Lujiang Road, Hefei, 230022, China.
Zhang SQ; Department of Biochemistry and Molecular Biology, Anhui Medical University, No. 81, Meishan Road, Hefei, 230022, China.
Wang K; Department of Neurology, The First Affiliated Hospital of Anhui Medical University, No. 218, Jixi Road, Hefei, 230022, China. wangneur2007@163.com.

Neurol Sci ; 36(10): 1917-9, 2015 Oct.

Article em En | MEDLINE | ID: mdl-26032578

Assuntos

Aminopeptidases/genética; Dipeptidil Peptidases e Tripeptidil Peptidases/genética; Mutação/genética; Lipofuscinoses Ceroides Neuronais/genética; Serina Proteases/genética; Ondas Encefálicas/genética; Pré-Escolar; Análise Mutacional de DNA; Eletroencefalografia; Feminino; Humanos; Tripeptidil-Peptidase 1

Palavras-chave

Ceroid lipofuscinosis neuronal 2; Late infantile neuronal ceroid lipofuscinoses (LINCL); Neuronal ceroid lipofuscinoses (NCL); Novel gene mutation; Tripeptidyl-peptidase 1

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dipeptidil Peptidases e Tripeptidil Peptidases / Serina Proteases / Aminopeptidases / Mutação / Lipofuscinoses Ceroides Neuronais Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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