A compound synonymous mutation c.474G>A with p.Arg578X...

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Experimental Dermatology 2016 / 03

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

Numata, Sanae, Teye, Kwesi, Krol, Rafal P., Okamatsu, Yuki, Hashikawa, Keiko, Matsuda, Mitsuhiro, Fortugno, Paola, Di Zenzo, Giovanni, Castiglia, Daniele, Zambruno, Giovanna, Hamada, Takahiro, Hashimo
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Language:
english
Journal:
Experimental Dermatology
DOI:
10.1111/exd.13011
Date:
March, 2016
File:
PDF, 600 KB
english, 2016
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