Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

Lignende værker

• Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
  af: Raghunath, M, et al.
  Udgivet: (1994)
• A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
  af: Karttunen, L., et al.
  Udgivet: (1994)
• A new missense mutation of fibrillin in a patient with Marfan syndrome.
  af: Hewett, D R, et al.
  Udgivet: (1994)
• Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.
  af: Rantamäki, T, et al.
  Udgivet: (1999)
• Abnormal fibrillin metabolism in bovine Marfan syndrome.
  af: Potter, K. A., et al.
  Udgivet: (1993)