載入...
Pseudodominant AOA2
We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both individuals. The apparent dominant inheritance pattern (pseudodominant) was the result of the u...
Na minha lista:
| 發表在: | Cerebellum Ataxias |
|---|---|
| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2015
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4552145/ https://ncbi.nlm.nih.gov/pubmed/26331048 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-015-0024-0 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|