載入...
Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
BACKGROUND: Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts screened to date. CASE PRESENTATIONS: We found five ca...
Na minha lista:
| 發表在: | Cerebellum Ataxias |
|---|---|
| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2020
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7310450/ https://ncbi.nlm.nih.gov/pubmed/32587707 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-020-00117-x |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|