Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

@article{Comeglio2001DetectionOS,
  title={Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.},
  author={Paolo Comeglio and Amy L. Evans and Glen W Brice and Anne H. Child},
  journal={Human mutation},
  year={2001},
  volume={18 3},
  pages={251}
}
Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular matrix, is due to mutations in fibrillin-1 (FBN1) gene. Investigations carried out in the last decade, unveiled the unpredictability of the site of the mutation, which could be anywhere in the gene. FBN1 mutations have been reported in a spectrum of diseases related to MFS, with no clear evidence for a phenotype-genotype correlation. In this paper we analysed 10 British patients affected by MFS and we were able to… CONTINUE READING

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Molecular analysis of eight mutations in FBN1

Human Genetics • 1999
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