Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

Tuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in either TSC1 or TSC2. All types of mutations, including large rearrangements, nons...

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Autori principali: van den Ouweland, Ans M W, Elfferich, Peter, Zonnenberg, Bernard A, Arts, Willem F, Kleefstra, Tjitske, Nellist, Mark D, Millan, Jose M, Withagen-Hermans, Caroline, Maat-Kievit, Anneke J A, Halley, Dicky J J
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3025786/
https://ncbi.nlm.nih.gov/pubmed/20877415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.156
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