Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disease caused by abnormal CAG repeat expansion in the ataxin 1 gene (ATXN1). The presence of CAT interruption(s) is important for diagnosing SCA1 in patients with 39–44 repeat alleles, as only uninterrupted alleles are considered abnorma...

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Detalles Bibliográficos
Autores principales: Jang, Ja-Hyun, Yoon, Sun Joo, Kim, Sun-Kyung, Cho, Jin Whan, Kim, Jong-Won
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Laboratory Medicine 2022
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548249/
https://www.ncbi.nlm.nih.gov/pubmed/34635619
http://dx.doi.org/10.3343/alm.2022.42.2.274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548249/
https://www.ncbi.nlm.nih.gov/pubmed/34635619
http://dx.doi.org/10.3343/alm.2022.42.2.274

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