Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.

@article{Liu1996MutantFM,
  title={Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.},
  author={Wanguo Liu and Chiping Qian and K Comeau and Thomas Brenn and Heinz Furthmayr and Uta Francke},
  journal={Human molecular genetics},
  year={1996},
  volume={5 10},
  pages={1581-7}
}
Marfan syndrome (MFS), a heritable connective tissue disorder, is caused by mutations in the gene coding for fibrillin-1 (FBN1), an extracellular matrix protein. One of the three major categories of FBN1 mutations involves exon-skipping. To rapidly detect such mutations, we developed a long RT-PCR method. Either three segments covering the entire FBN1 coding sequence or a single 8.9 kb FBN1 coding segment were amplified from reverse-transcribed total fibroblast RNA. Restriction fragment… CONTINUE READING

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