Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene

Am J Med Genet A. 2007 Jun 1;143A(11):1246-8. doi: 10.1002/ajmg.a.31728.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Asparagine / genetics*
  • Aspartic Acid / genetics*
  • Base Sequence
  • China
  • Female
  • Hedgehog Proteins / genetics*
  • Humans
  • Limb Deformities, Congenital / diagnostic imaging
  • Limb Deformities, Congenital / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Radiography

Substances

  • Hedgehog Proteins
  • Aspartic Acid
  • Asparagine