ロード中...
New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several SCA subtypes are difficult to establish, and the...
保存先:
| 出版年: | J Mov Disord |
|---|---|
| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Korean Movement Disorder Society
2021
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7840235/ https://ncbi.nlm.nih.gov/pubmed/33121221 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14802/jmd.20082 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|