Φορτώνει......
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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
|---|---|
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMC
2016-10-01
|
| Σειρά: | Orphanet Journal of Rare Diseases |
| Θέματα: | |
| Διαθέσιμο Online: | http://link.springer.com/article/10.1186/s13023-016-0525-9 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|