A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome

Sanae Numata, Kwesi Teye, Rafal P. Krol, Yuki Okamatsu, Keiko Hashikawa, Mitsuhiro Matsuda, Paola Fortugno, Giovanni Di Zenzo, Daniele Castiglia, Giovanna Zambruno, Takahiro Hamada, Takashi Hashimoto

Research output: Contribution to journalLetter

Original languageEnglish
Pages (from-to)568-570
Number of pages3
JournalExperimental Dermatology
Volume25
Issue number7
DOIs
Publication statusPublished - Jul 1 2016

Keywords

  • Netherton syndrome
  • p.Gln158Gln
  • pathogenicity
  • SPINK5

ASJC Scopus subject areas

  • Dermatology
  • Molecular Biology
  • Biochemistry

Cite this

Numata, S., Teye, K., Krol, R. P., Okamatsu, Y., Hashikawa, K., Matsuda, M., Fortugno, P., Di Zenzo, G., Castiglia, D., Zambruno, G., Hamada, T., & Hashimoto, T. (2016). A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. Experimental Dermatology, 25(7), 568-570. https://doi.org/10.1111/exd.13011