Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

Podobne zapisy

• Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
  od: Raghunath, M, i wsp.
  Wydane: (1994)
• Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.
  od: Milewicz, D M
  Wydane: (1994)
• Abnormal fibrillin metabolism in bovine Marfan syndrome.
  od: Potter, K. A., i wsp.
  Wydane: (1993)
• Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
  od: Kainulainen, K, i wsp.
  Wydane: (1992)
• Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.
  od: Superti-Furga, A, i wsp.
  Wydane: (1992)