A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

Antzeko izenburuak

• Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
  nork: Kainulainen, K, et al.
  Argitaratua: (1992)
• Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
  nork: Raghunath, M, et al.
  Argitaratua: (1994)
• Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.
  nork: Hewett, D., et al.
  Argitaratua: (1994)
• Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.
  nork: Milewicz, D M
  Argitaratua: (1994)
• Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities
  nork: Mahoney, Mỹ G., et al.
  Argitaratua: (2009)