A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia

Indian J Pediatr. 2019 Jul;86(7):664-665. doi: 10.1007/s12098-019-02970-z. Epub 2019 May 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Ciliary Motility Disorders / diagnosis
  • Ciliary Motility Disorders / genetics*
  • Ciliary Motility Disorders / physiopathology
  • Codon, Nonsense / genetics*
  • Female
  • Homozygote*
  • Humans
  • Infant
  • Male
  • Microfilament Proteins / genetics*
  • Microscopy, Video
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Respiration Disorders

Substances

  • Codon, Nonsense
  • HYDIN protein, human
  • Microfilament Proteins