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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2020
Aiheet:
Article
Linkit: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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