Associated Papers
Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
Hass J et al.
Human Mutation, 2000
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
Mayer K et al.
Human Mutation, 1999
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
Ali JB et al.
Journal of Medical Genetics, 1998
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Dabora SL et al.
Annals of Human Genetics, 1998
Select a paper to view details