Prenatal diagnosis of Machado‐Joseph disease/spinocerebellar ataxia type 3 in Taiwan: Early detection of expanded ataxin‐3

Machado‐Joseph disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a translated CAG repeat expansion. Here, we present the first prenatal diagnosis of MJD in Taiwan in a woman whose husband was known...

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Vydáno v:J Clin Lab Anal
Hlavní autoři: Tsai, Hui‐Fang, Liu, Chin‐San, Chen, Gin‐Den, Lin, Mei‐Ling, Li, Chuan, Chen, Yi‐Yun, Wang, Bao‐Tyan, Hsieh, Mingli
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley Subscription Services, Inc., A Wiley Company 2003
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6808029/
https://ncbi.nlm.nih.gov/pubmed/12938149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.10092
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