Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disease with a high mutation rate. It is clinically a very variable disorder and hamartomas can occur in many different organs. TSC shows genetic heterogeneity; one gene, TSC1, is on chromosome 9q34, and the second gene, TSC2, on...

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Main Authors: Vrtel, R, Verhoef, S, Bouman, K, Maheshwar, M M, Nellist, M, van Essen, A J, Bakker, P L, Hermans, C J, Bink-Boelkens, M T, van Elburg, R M, Hoff, M, Lindhout, D, Sampson, J, Halley, D J, van den Ouweland, A M
Format: Artigo
Language:Inglês
Published: 1996
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051811/
https://ncbi.nlm.nih.gov/pubmed/8825048
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