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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7303179/
https://ncbi.nlm.nih.gov/pubmed/32555378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-66588-4
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