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Mammalian Genome 11, 1135–1138 (2000). DOI: 10.1007/s003350010203 Incorporating Mouse Genome © Springer-Verlag New York Inc. 2000 Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus 1 2 1 1 2 Jeremy P. Cheadle, Lorraine Dobbie, Shelley Idziaszczyk, Angela K. Hodges, Andrew J.H. Smith, 1 3 Julian R. Sampson, Janet Young Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK Centre for Genome Research, University of Edinburgh, The King’s Buildings, West Mains Road, Edinburgh, EH9 3JQ, UK Department of Molecular Biotechnology, University of Washington, Box 357730, Seattle, Washington 98195, USA Received: 7 April 2000 / Accepted: 25 July 2000 Tuberous sclerosis (TSC) is a disorder characterized by the pres- Chromosome 16 Tuberous Sclerosis Consortium 1993). Human ence of benign tumors, called hamartomas, in many organs TSC1 has two leader and 21 coding exons (encoding a 3492-bp (Gomez et al. 1999) and is estimated to affect at least 1 in 10,000 ORF), and mutation analysis studies in patients with TSC have live births. It is inherited as an autosomal dominant trait, but 60– shown that small truncating lesions are common at this locus, 70% of cases are sporadic and represent
Mammalian Genome – Springer Journals
Published: Dec 1, 2000
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