New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure

Eur Respir J. 2010 Jun;35(6):1413-6. doi: 10.1183/09031936.00186209.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Axonemal Dyneins / genetics*
  • Axoneme / pathology
  • Axoneme / ultrastructure*
  • Base Sequence
  • Child
  • Family Health
  • Female
  • Humans
  • Kartagener Syndrome / genetics*
  • Kartagener Syndrome / pathology*
  • Male
  • Mutation, Missense*

Substances

  • Axonemal Dyneins
  • DNAH11 protein, human