The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy.

Shi, Meizhen; Chen, Xin; Zeng, Lanlan; Li, Zhuo; Liang, Desheng; Wu, Lingqian

Shi, Meizhen; Chen, Xin; Zeng, Lanlan; Li, Zhuo; Liang, Desheng; Wu, Lingqian.

Afiliação

Shi M; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China.
Chen X; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China.
Zeng L; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China.
Li Z; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China.
Liang D; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China. Electronic address: Liangdesheng@sklmg.edu.cn.
Wu L; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, PR China. Electronic address: Wulingqian@sklmg.edu.cn.

Clin Chim Acta ; 502: 91-98, 2020 Mar.

Article em En | MEDLINE | ID: mdl-31877298

Assuntos

Elementos Alu/genética; Neuropatia Axonal Gigante/genética; Criança; Quimerismo; DNA/genética; Humanos; Masculino; Mutação; Reação em Cadeia da Polimerase

Palavras-chave

Alu elements; Chimerism; Complex rearrangements; GAN; Giant axonal neuropathy; Gigaxonin

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Elementos Alu / Neuropatia Axonal Gigante Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Clin Chim Acta Ano de publicação: 2020 Tipo de documento: Article

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