Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

Clin Genet. 2005 Dec;68(6):561-3. doi: 10.1111/j.1399-0004.2005.00535.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Sequence
  • Aortic Aneurysm / genetics*
  • Aortic Aneurysm / pathology
  • Base Sequence
  • Coronary Angiography
  • DNA Mutational Analysis
  • Fibrillins
  • Gene Frequency
  • Genetic Testing
  • Haplotypes / genetics
  • Humans
  • Korea
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics
  • Mutation / genetics*
  • Pedigree
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Syndrome

Substances

  • Fibrillins
  • Microfilament Proteins
  • Receptors, Transforming Growth Factor beta
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II