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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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Detalhes bibliográficos
Main Authors: Whited, Kevin, Baile, Matthew G., Currier, Pamela, Claypool, Steven M.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
Assuntos:
Acesso em linha: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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