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智利医学遗传学与基因组医学述评:智利神经退行性疾病分子诊断经验

Commentary to medical genetics and genomic medicine in Chile: Chilean experience on molecular diagnosis for neurodegenerative disorders.

作者信息

Miranda Marcelo, Bustamante María Leonor

机构信息

Department of NeurologyClínica Las CondesAv. Lo Fontecilla 441Las CondesSantiagoChile.

Program of Human GeneticsBiomedical Sciences InstituteAv. Independencia 1027IndependenciaSantiagoChile.

出版信息

Mol Genet Genomic Med. 2017 May 2;5(4):305-306. doi: 10.1002/mgg3.288. eCollection 2017 Jul.

Abstract

In this article, the experience in the molecular diagnosis in neurodegenerative disorders in Chile, including present challenges and potential new pathways for development, is explained.

摘要

本文阐述了智利在神经退行性疾病分子诊断方面的经验,包括当前面临的挑战以及潜在的新发展途径。

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本文引用的文献

1
Clinical exome sequencing in neurologic disease.神经系统疾病的临床外显子组测序
Neurol Clin Pract. 2016 Apr;6(2):164-176. doi: 10.1212/CPJ.0000000000000239.
5
Medical genetics and genetic counseling in Chile.智利的医学遗传学与遗传咨询
J Genet Couns. 2013 Dec;22(6):869-74. doi: 10.1007/s10897-013-9607-1. Epub 2013 Jun 7.
8

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