3Torres VE, Bjornsson J, King BF, et al. Extrapulmonary lymph-angioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex. Mayo Clin Proc,1995,70:641-648.
4The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell,1993,75:1305-1315.
5van Slegtenhorst M, de Hoogt R ,Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science, 1997,227:805-808.
7Jones AC, Daniells CE, Snell RG, et al. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet,1997,6:2155-2161.
8Niida Y, Lawrence-Smith N, Banwell A,et al. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat,1999,14:412-422.
9Young JM, Burley MW, Jeremiah SJ,et al. 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. Ann Hum Genet,1998,62:203-213.
10van Slegtenhorst M, Verhoef S, Tempelaars A, et al.Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. J Med Genet,1999,36:285-289.