Goudvelden in den Oranje Vrijstaat

Iets over den Oranje-Vrijstaat

✍ J. K. W. Quarles van Ufford 📂 Article 📅 1873 🏛 Springer 🌐 English ⚖ 737 KB

Identification of a large insertion and

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients

✍ Q Wang; S Verhoef; AMP Tempelaars; PLG Bakker; R Vrtel; ALW Hesseling-Janssen,; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 2 views

Important symptoms of tuberous sclerosis complex (TSC), an autosomal dominant disor der, are hamartomata in several organs, mental retardation and epilepsy. Either one of two loci can be involved (TSC1 and TSC2), of which the TSC2 gene has been cloned. To date, only 35 mutations in the TSC2 gene hav