Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

@article{Pereira1993GenomicOO,
  title={Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.},
  author={Luisa Machado Os{\'o}rio Pereira and M L D'alessio and Fernando Rivadeneira Ramirez and Janine Lynch and Bryan Sykes and T Pangilinan and Jeffrey F. Bonadio},
  journal={Human molecular genetics},
  year={1993},
  volume={2 7},
  pages={
          961-8
        }
}
Marfan syndrome results from mutations in an extracellular matrix glycoprotein, fibrillin. Previous studies have characterized approximately 6.9-kb of the estimated 10-kb fibrillin transcript. We have now completed the primary structure of fibrillin, elucidated the exon/intron organization of the gene and derived a physical map of the genetic locus. Pre-fibrillin consists of 2,871 amino acids which, excluding the signal peptide, are arranged into five structurally distinct regions. The largest… CONTINUE READING

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