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

Samankaltaisia teoksia

• Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
  Tekijä: Nellist, Mark, et al.
  Julkaistu: (2008)
• High rate of mosaicism in tuberous sclerosis complex.
  Tekijä: Verhoef, S, et al.
  Julkaistu: (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.
  Tekijä: Vrtel, R, et al.
  Julkaistu: (1996)
• Missense mutations to the TSC1 gene cause tuberous sclerosis complex
  Tekijä: Nellist, Mark, et al.
  Julkaistu: (2009)
• Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
  Tekijä: van den Ouweland, Ans M W, et al.
  Julkaistu: (2011)