Identification of Pathological FBN1 Variants Is Not Straightforward

Circ Genom Precis Med. 2018 Jun;11(6):e002168. doi: 10.1161/CIRCGEN.118.002168.
No abstract available

Keywords: Editorials; Marfan syndrome; fibrillin-1; genomics; genotype; precision medicine.

Publication types

  • Editorial
  • Comment

MeSH terms

  • Fibrillin-1
  • Genetics, Medical*
  • Genomics
  • Humans
  • Marfan Syndrome*
  • Pathology, Molecular
  • United States

Substances

  • FBN1 protein, human
  • Fibrillin-1