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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...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Oxford University Press
2013
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| Teme: | |
| Online dostop: | 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 |
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