Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in TSC1 and TSC2. Conventional DNA diagnostic screens identify a TSC1 or TSC2 mutation in 75 - 90% of individuals categorised with definite TSC. The remaining individuals either have a mutation that is...

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Detalles Bibliográficos
Autores principales: Nellist, Mark, Brouwer, Rutger WW, Kockx, Christel EM, van Veghel-Plandsoen, Monique, Withagen-Hermans, Caroline, Prins-Bakker, Lida, Hoogeveen-Westerveld, Marianne, Mrsic, Alan, van den Berg, Mike MP, Koopmans, Anna E, de Wit, Marie-Claire, Jansen, Floor E, Maat-Kievit, Anneke JA, van den Ouweland, Ans, Halley, Dicky, de Klein, Annelies, van IJcken, Wilfred FJ
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422413/
https://www.ncbi.nlm.nih.gov/pubmed/25927202
http://dx.doi.org/10.1186/s12881-015-0155-4

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