A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.

Liu, L; Li, X B; Zi, X H; Shen, L; Hu, Zh M; Huang, Sh X; Yu, D L; Li, H B; Xia, K; Tang, B S; Zhang, R X

Liu, L; Li, X B; Zi, X H; Shen, L; Hu, Zh M; Huang, Sh X; Yu, D L; Li, H B; Xia, K; Tang, B S; Zhang, R X.

Afiliação

Liu L; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Li XB; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Zi XH; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Shen L; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan Province, China.
Hu ZhM; National Key Lab of Medical Genetics, Central South University, Changsha 410078, Hunan Province, China.
Huang ShX; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Yu DL; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Li HB; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha 410008, Hunan Province, China.
Xia K; National Key Lab of Medical Genetics, Central South University, Changsha 410078, Hunan Province, China.
Tang BS; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan Province, China; National Key Lab of Medical Genetics, Central South University, Changsha 410078, Hunan Province, China.
Zhang RX; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China. Electronic address: zhangruxu@vip.163.com.

J Neurol Sci ; 362: 111-4, 2016 Mar 15.

Article em En | MEDLINE | ID: mdl-26944128

Assuntos

Predisposição Genética para Doença/genética; Proteínas de Choque Térmico/genética; Espasticidade Muscular/genética; Polimorfismo de Nucleotídeo Único/genética; Ataxias Espinocerebelares/congênito; Povo Asiático/genética; Criança; Feminino; Perfilação da Expressão Gênica; Estudo de Associação Genômica Ampla; Humanos; Análise de Sequência com Séries de Oligonucleotídeos; Ataxias Espinocerebelares/genética

Palavras-chave

Autosomal recessive spastic ataxia of CharlevoixSaguenay (ARSACS); Deletion; Inherited peripheral neuropathy (IPN); Nonsense mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Ataxias Espinocerebelares / Polimorfismo de Nucleotídeo Único / Proteínas de Choque Térmico / Espasticidade Muscular Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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