Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

Infantile-onset skeletal myopathy Barth syndrome (OMIM #302060) is caused by mutations in the X-linked TAZ gene and hence usually manifests itself only in hemizygous males. Confirmatory testing is provided by mutational analysis of the TAZ gene and/or by biochemical dosage of the monolysocardiolipin...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Ferri, Lorenzo, Donati, Maria A, Funghini, Silvia, Cavicchi, Catia, Pensato, Viviana, Gellera, Cinzia, Natacci, Federica, Spaccini, Luigina, Gasperini, Serena, Vaz, Frédéric M, Cooper, David N, Guerrini, Renzo, Morrone, Amelia
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795190/
https://ncbi.nlm.nih.gov/pubmed/25782672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.50
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