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

@article{Numata2016ACS,
  title={A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.},
  author={Sanae Numata and Kwesi Teye and Rafal Przybyslaw Krol and Yuki Okamatsu and Keiko Hashikawa and Mitsuhiro Matsuda and Paola Fortugno and Giovanni Di Zenzo and Daniele Castiglia and G. M. Zambruno and Takahiro Hamada and Takashi Hashimoto},
  journal={Experimental dermatology},
  year={2016},
  volume={25 7},
  pages={568-70}
}