Laddar...
Seven functional classes of Barth syndrome mutation
Patients with Barth syndrome (BTHS), a rare X-linked disease, suffer from skeletal and cardiomyopathy and bouts of cyclic neutropenia. The causative gene encodes tafazzin, a transacylase, which is the major determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, C...
Sparad:
| Huvudupphovsmän: | , , , |
|---|---|
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Oxford University Press
2013
|
| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3606006/ https://ncbi.nlm.nih.gov/pubmed/23100323 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds447 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|