Učitavanje...
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...
Spremljeno u:
| Glavni autori: | , , , , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMC
2016-10-01
|
| Serija: | Orphanet Journal of Rare Diseases |
| Teme: | |
| Online pristup: | http://link.springer.com/article/10.1186/s13023-016-0525-9 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|