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Identification of Novel Mitochondrial Localization Signals in Human Tafazzin, the Cause of the Inherited Cardiomyopathic Disorder Barth Syndrome
Mutations in the gene tafazzin (TAZ) result in Barth syndrome (BTHS). Patients present with hypotonia, cyclic neutropenia, 3-methyglutaconic aciduria, and cardiomyopathy, which is the major cause of mortality. The recessive, X-linked TAZ gene encodes a mitochondrial membrane-associated phospholipid...
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| Publicado no: | J Mol Cell Cardiol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5801207/ https://ncbi.nlm.nih.gov/pubmed/29129703 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yjmcc.2017.11.005 |
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