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Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients

✍ Scribed by Green, Andrew J.; Smith, Moyra; Yates, John R.W.


Book ID
109915149
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
391 KB
Volume
6
Category
Article
ISSN
1061-4036

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To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSCI and TSC2) and seven tumor suppressor gene-containing regions (TP53, NFI, NF2, BRCA I, APC, VHL, and MLM) in 20 hamartomas from 18 TSC patients

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Angiomyolipomas (AMLs) are renal tumors that occur both sporadically and in association with tuberous sclerosis (TSC). TSC is an autosomal dominant disorder characterized by hamartomatous lesions in multiple organs. Two TSC loci are recognized TSCl on 9q34 and TSC2 on 16pl3. Loss of heterozygosity (