Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in the skin and other organs, including brain, heart, lung, kidney and bones. TSC is caused by mutations in TSC1 and TSC2. Here, we present the TSC1 and TSC2 variants identified in 168 Danish individuals o...

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Detalles Bibliográficos
Autores principales: Rosengren, Thomas, Nanhoe, Santoesha, de Almeida, Luis Gustavo Dufner, Schönewolf-Greulich, Bitten, Larsen, Lasse Jonsgaard, Hey, Caroline Amalie Brunbjerg, Dunø, Morten, Ek, Jakob, Risom, Lotte, Nellist, Mark, Møller, Lisbeth Birk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303179/
https://www.ncbi.nlm.nih.gov/pubmed/32555378
http://dx.doi.org/10.1038/s41598-020-66588-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303179/
https://www.ncbi.nlm.nih.gov/pubmed/32555378
http://dx.doi.org/10.1038/s41598-020-66588-4

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