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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

Van Slegtenhorst, M; De Hoogt, R; Hermans, C; Nellist, M; Janssen, B; Verhoef, S; Lindhout, D; (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science , 277 (5327) pp. 805-808. 10.1126/science.277.5327.805.

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Abstract

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 8.6kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allale was found in a TSC- associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

Type: Article
Title: Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
DOI: 10.1126/science.277.5327.805
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of)
URI: http://discovery.ucl.ac.uk/id/eprint/21594
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