A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia

Am J Respir Cell Mol Biol. 2022 Oct;67(4):511-514. doi: 10.1165/rcmb.2022-0176LE.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Axonemal Dyneins*
  • Cilia
  • Humans
  • Kartagener Syndrome*
  • Mutation / genetics

Substances

  • Axonemal Dyneins
  • DNAH11 protein, human