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Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

โœ Scribed by Sandra L. Dabora; Sergiusz Jozwiak; David Neal Franz; Penelope S. Roberts; Andres Nieto; Joon Chung; Yew-Sing Choy; Mary Pat Reeve; Elizabeth Thiele; John C. Egelhoff; Jolanta Kasprzyk-Obara; Dorota Domanska-Pakiela; David J. Kwiatkowski


Book ID
117853508
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
277 KB
Volume
68
Category
Article
ISSN
0002-9297

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Analysis of both TSC1 and TSC2 for germl
โœ Yo Niida; Nicole Lawrence-Smith; Ashleigh Banwell; Erica Hammer; Janine Lewis; R ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 339 KB ๐Ÿ‘ 2 views

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