Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair

J Dermatol. 2019 Jan;46(1):e19-e20. doi: 10.1111/1346-8138.14534. Epub 2018 Jul 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Asian People / genetics
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • HEK293 Cells
  • Hair / abnormalities*
  • Hair Diseases / genetics*
  • Humans
  • Lipase / genetics*
  • Mutation
  • Pedigree
  • RNA Splice Sites / genetics

Substances

  • LIPC protein, human
  • RNA Splice Sites
  • Lipase

Supplementary concepts

  • Woolly Hair, Autosomal Recessive