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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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Hauptverfasser: | , , , , , , , , , , , , , , |
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Format: | Artigo |
Sprache: | Inglês |
Veröffentlicht: |
1996
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Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051811/ https://ncbi.nlm.nih.gov/pubmed/8825048 |
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