A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome

Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stabil...

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Detalles Bibliográficos
Autores principales: Bakšienė, M, Benušienė, E, Morkūnienė, A, Ambrozaitytė, L, Utkus, A, Kučinskas, V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343338/
https://www.ncbi.nlm.nih.gov/pubmed/28289596
http://dx.doi.org/10.1515/bjmg-2016-0043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343338/
https://www.ncbi.nlm.nih.gov/pubmed/28289596
http://dx.doi.org/10.1515/bjmg-2016-0043

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