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罕见病的基因检测

Genetic Testing for Rare Diseases.

作者信息

Millán José M, García-García Gema

机构信息

Instituto de Investigación Sanitaria La Fe, Molecular, Cellular and Genomics Biomedicine, 46026 Valencia, Spain.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.

出版信息

Diagnostics (Basel). 2022 Mar 25;12(4):809. doi: 10.3390/diagnostics12040809.

Abstract

The term rare disease was coined in the 1970s to refer to diseases that have a low prevalence [...].

摘要

“罕见病”一词于20世纪70年代被创造出来,用以指代那些患病率较低的疾病[……]

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本文引用的文献

1
Precision medicine for rare diseases: The times they are A-Changin'.罕见病的精准医学:时代正在改变。
Curr Opin Pharmacol. 2022 Apr;63:102201. doi: 10.1016/j.coph.2022.102201. Epub 2022 Mar 4.
5
Current Status of Genetic Counselling for Rare Diseases in Spain.西班牙罕见病遗传咨询的现状
Diagnostics (Basel). 2021 Dec 9;11(12):2320. doi: 10.3390/diagnostics11122320.

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