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45. Non-penetrance in tuberous sclerosis. Osborne JP; Jones AC; Burley MW; Jeganathan D; Young J; O'Callaghan FJ; Sampson JR; Povey S Lancet; 2000 May; 355(9216):1698. PubMed ID: 10905251 [TBL] [Abstract][Full Text] [Related]
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47. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Green AJ; Smith M; Yates JR Nat Genet; 1994 Feb; 6(2):193-6. PubMed ID: 8162074 [TBL] [Abstract][Full Text] [Related]
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51. Tuberous sclerosis: from tubers to mTOR. Kwiatkowski DJ Ann Hum Genet; 2003 Jan; 67(Pt 1):87-96. PubMed ID: 12556239 [TBL] [Abstract][Full Text] [Related]
52. A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients. Young JM; Burley MW; Jeremiah SJ; Jeganathan D; Ekong R; Osborne JP; Povey S Ann Hum Genet; 1998 May; 62(Pt 3):203-13. PubMed ID: 9803264 [TBL] [Abstract][Full Text] [Related]
54. Genotype-phenotype correlations in tuberous sclerosis: who and how to treat. Goh S; Weiss WA Ann Neurol; 2006 Nov; 60(5):505-507. PubMed ID: 17120247 [No Abstract] [Full Text] [Related]
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56. Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Northrup H; Kwiatkowski DJ; Roach ES; Dobyns WB; Lewis RA; Herman GE; Rodriguez E; Daiger SP; Blanton SH Am J Hum Genet; 1992 Oct; 51(4):709-20. PubMed ID: 1415216 [TBL] [Abstract][Full Text] [Related]
57. The genetic basis of tuberous sclerosis. Young J; Povey S Mol Med Today; 1998 Jul; 4(7):313-9. PubMed ID: 9743993 [TBL] [Abstract][Full Text] [Related]
58. Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. Kerfoot C; Wienecke R; Menchine M; Emelin J; Maize JC; Welsh CT; Norman MG; DeClue JE; Vinters HV Brain Pathol; 1996 Oct; 6(4):367-75. PubMed ID: 8944308 [TBL] [Abstract][Full Text] [Related]
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