A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix

Hum Hered. 2000 Sep-Oct;50(5):322-4. doi: 10.1159/000022936.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine / genetics
  • Amino Acid Motifs
  • Female
  • Glutamic Acid / genetics
  • Hair / abnormalities
  • Humans
  • Hypotrichosis / congenital
  • Hypotrichosis / genetics*
  • Infant
  • Keratins / genetics*
  • Keratosis / congenital
  • Keratosis / genetics
  • Male
  • Mutation, Missense*
  • Pedigree

Substances

  • Glutamic Acid
  • Keratins
  • Alanine