Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis

Am J Respir Crit Care Med. 2013 Mar 15;187(6):663-5. doi: 10.1164/ajrccm.187.6.663.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Exons
  • Genetic Predisposition to Disease
  • Humans
  • Loss of Heterozygosity
  • Lung Transplantation
  • Lymphangioleiomyomatosis / genetics*
  • Multiplex Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics*
  • Tumor Suppressor Proteins / metabolism

Substances

  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins