Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

समान संसाधन

• Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
  द्वारा: Nellist, Mark, और अन्य
  प्रकाशित: (2008)
• High rate of mosaicism in tuberous sclerosis complex.
  द्वारा: Verhoef, S, और अन्य
  प्रकाशित: (1999)
• Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
  द्वारा: Vrtel, R, और अन्य
  प्रकाशित: (1996)
• Missense mutations to the TSC1 gene cause tuberous sclerosis complex
  द्वारा: Nellist, Mark, और अन्य
  प्रकाशित: (2009)
• Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
  द्वारा: van den Ouweland, Ans M W, और अन्य
  प्रकाशित: (2011)