Article
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Science (New York, N.Y.) - 8 Aug 1997
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell R G, Cheadle J P, Jones A C, Tachataki M, Ravine D, Sampson J R, Reeve M P, Richardson P, Wilmer F, Munro C, Hawkins T L, Sepp T, Ali J B, Ward S, Green A J, Yates J R, Kwiatkowska J, Henske E P, Short M P, Haines J H, Jozwiak S, Kwiatkowski D J
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons...
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