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Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

✍ Scribed by Kit-Sing Au; Joseph A. Rodriguez; Jennifer L. Finch; Kelly A. Volcik; E. Steve Roach; Mauricio R. Delgado; Estanislado Rodriguez Jr.; Hope Northrup

Book ID: 117852282
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 545 KB
Volume: 62
Category: Article
ISSN: 0002-9297
DOI: 10.1086/301705

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. About two-thirds of the cases are sporadic and appear to represent new mutations. With the cloning of two causative genes, TSC1 and TSC2 it is now possibl