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New clinical and molecular insights on Barth syndrome

BACKGROUND: Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria. It is caused by mutations in the TAZ gene encoding tafazzin, a protein involved in the metabolism of cardiolipi...

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Detalles Bibliográficos
Autores principales:	Ferri, Lorenzo, Donati, Maria Alice, Funghini, Silvia, Malvagia, Sabrina, Catarzi, Serena, Lugli, Licia, Ragni, Luca, Bertini, Enrico, Vaz, Frédéréc M, Cooper, David N, Guerrini, Renzo, Morrone, Amelia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599367/ https://www.ncbi.nlm.nih.gov/pubmed/23409742 http://dx.doi.org/10.1186/1750-1172-8-27

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