載入...
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
Abstract Background Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been repor...
Na minha lista:
| Main Authors: | , , , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BMC
2016-10-01
|
| 叢編: | Orphanet Journal of Rare Diseases |
| 主題: | |
| 在線閱讀: | http://link.springer.com/article/10.1186/s13023-016-0525-9 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|