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Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome

  • Published:1999-02 Issue:2 Volume:55 Page:110-117
  • ISSN:0009-9163
  • Container-title:Clinical Genetics
  • language:en
  • Short-container-title:Clinical Genetics

Author:

Booms Patrick,Cisler Jason,Mathews Kurt R.,Godfrey Maurice,Tiecke Frank,Kaufmann Ursula C.,Vetter Ulrich,Hagemeier Christian,Robinson Peter N.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. Ascertainment and severity of Marfan syndrome in a Scottish population;Gray;J Med Genet,1994

2. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome;Milewicz;J Clin Invest,1995

3. A novel mutation of the fibrillin gene causing ectopia lentis;Lönnqvist;Genomics,1994

4. Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome;Godfrey;Am J Pathol,1995

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