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

doi:10.1111/exd.13011

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

Istituto Dermopatico dell'Immacolata , IDI

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	568-570
Number of pages	3
Journal	Experimental Dermatology
Volume	25
Issue number	7
DOIs	https://doi.org/10.1111/exd.13011
Publication status	Published - Jul 1 2016

Keywords

Netherton syndrome
p.Gln158Gln
pathogenicity
SPINK5

ASJC Scopus subject areas

Dermatology
Molecular Biology
Biochemistry

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10.1111/exd.13011

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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

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; Hashimoto, Takashi.

In: Experimental Dermatology, Vol. 25, No. 7, 01.07.2016, p. 568-570.

Research output: Contribution to journal › Letter › peer-review

Numata, S, Teye, K, Krol, RP, 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, vol. 25, no. 7, pp. 568-570. https://doi.org/10.1111/exd.13011

Numata, Sanae ; Teye, Kwesi ; Krol, Rafal P. ; Okamatsu, Yuki ; Hashikawa, Keiko ; Matsuda, Mitsuhiro ; Fortugno, Paola ; Di Zenzo, Giovanni ; Castiglia, Daniele ; Zambruno, Giovanna ; Hamada, Takahiro ; Hashimoto, Takashi. / A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. In: Experimental Dermatology. 2016 ; Vol. 25, No. 7. pp. 568-570.

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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",

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AU - Numata, Sanae

AU - Teye, Kwesi

AU - Krol, Rafal P.

AU - Okamatsu, Yuki

AU - Hashikawa, Keiko

AU - Matsuda, Mitsuhiro

AU - Fortugno, Paola

AU - Di Zenzo, Giovanni

AU - Castiglia, Daniele

AU - Zambruno, Giovanna

AU - Hamada, Takahiro

AU - Hashimoto, Takashi

PY - 2016/7/1

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KW - Netherton syndrome

KW - p.Gln158Gln

KW - pathogenicity

KW - SPINK5

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JO - Experimental Dermatology

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SN - 0906-6705

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

Keywords

ASJC Scopus subject areas

Access to Document

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