Establishment and Maintenance of Primary Fibroblast Repositories for Rare DiseasesFriedreich's Ataxia Example
Establishment and Maintenance of Primary Fibroblast Repositories for Rare DiseasesFriedreich's Ataxia Example
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DOI：
10.1089/bio.2015.0117
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发表时间：
2016-08-01
影响因子：
1.6
通讯作者：
Napierala, Marek
中科院分区：
文献类型：
--
作者：
Li, Yanjie;Polak, Urszula;Napierala, Marek
弗里德赖希共济失调（FRDA）是一种罕见的神经退行性疾病，由FXN基因第一个内含子中GAA三核苷酸重复扩增引起。FRDA患者中GAA重复序列的数量从大约60到100不等
Friedreich's ataxia (FRDA) represents a rare neurodegenerative disease caused by expansion of GAA trinucleotide repeats in the first intron of the FXN gene. The number of GAA repeats in FRDA patients varies from approximately 60 to