P1148A in fibrillin-1 is not a mutation anymore

Nat Genet. 1997 Jan;15(1):12. doi: 10.1038/ng0197-12.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Alanine
  • Ethnicity / genetics
  • Female
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Male
  • Microfilament Proteins / genetics*
  • Point Mutation*
  • Polymorphism, Genetic*
  • Proline

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins
  • Proline
  • Alanine