Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is caused by loss of function variants in either TSC1 or TSC2 and is characterized by broad phenotypic heterogeneity. Currently, there is limited knowledge regarding the role of the mitochondrial genome (mtDNA) in TSC pathogenesis. In this study, we aimed to determin...

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Detalles Bibliográficos
Autores principales: Giannikou, Krinio, Martin, Katie R., Abdel-Azim, Ahmad G., Pamir, Kaila J., Hougard, Thomas R., Bagwe, Shefali, Tang, Yan, MacKeigan, Jeffrey P., Kwiatkowski, David J., Henske, Elizabeth P., Lam, Hilaire C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923026/
https://www.ncbi.nlm.nih.gov/pubmed/36793390
http://dx.doi.org/10.3389/fgene.2022.917993

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923026/
https://www.ncbi.nlm.nih.gov/pubmed/36793390
http://dx.doi.org/10.3389/fgene.2022.917993

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