P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome

Hum Mutat. 1997;10(4):326-7. doi: 10.1002/(SICI)1098-1004(1997)10:4<326::AID-HUMU10>3.0.CO;2-1.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Female
  • Fibrillin-1
  • Fibrillins
  • Gene Frequency
  • Heart Defects, Congenital / genetics
  • Heterozygote
  • Humans
  • Japan
  • Male
  • Microfilament Proteins / genetics*
  • Mutation*
  • Restriction Mapping
  • Syndrome

Substances

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