@article{6265742f14df40a8a83692f6b5e9d01b,
title = "A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome",
keywords = "Netherton syndrome, p.Gln158Gln, pathogenicity, SPINK5",
author = "Sanae Numata and Kwesi Teye and Krol, {Rafal P.} and Yuki Okamatsu and Keiko Hashikawa and Mitsuhiro Matsuda and Paola Fortugno and {Di Zenzo}, Giovanni and Daniele Castiglia and Giovanna Zambruno and Takahiro Hamada and Takashi Hashimoto",
year = "2016",
month = jul,
day = "1",
doi = "10.1111/exd.13011",
language = "English",
volume = "25",
pages = "568--570",
journal = "Experimental Dermatology",
issn = "0906-6705",
publisher = "Wiley-Blackwell",
number = "7",
}