Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs∗36) underlies hypohidrotic ectodermal dysplasia in a Japanese family

Yuichi Kurihara; Ryota Hayashi; Emiko Watanabe; Shun Ichi Miyakawa; Kumiko Kajiwara; Maiko Matsuda; Kazue Yoshida; Yutaka Shimomura; Hironori Niizeki

doi:10.1111/1346-8138.12701

Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs∗36) underlies hypohidrotic ectodermal dysplasia in a Japanese family

Yuichi Kurihara, Ryota Hayashi, Emiko Watanabe, Shun Ichi Miyakawa, Kumiko Kajiwara, Maiko Matsuda, Kazue Yoshida, Yutaka Shimomura, Hironori Niizeki

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

3 Citations (Scopus)

Original language	English
Pages (from-to)	1110-1112
Number of pages	3
Journal	Journal of Dermatology
Volume	41
Issue number	12
DOIs	https://doi.org/10.1111/1346-8138.12701
Publication status	Published - 2014 Dec 1
Externally published	Yes

ASJC Scopus subject areas

Dermatology

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10.1111/1346-8138.12701

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@article{92dca34703f74e61855124b3c1cdeef1,

title = "Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs∗36) underlies hypohidrotic ectodermal dysplasia in a Japanese family",

author = "Yuichi Kurihara and Ryota Hayashi and Emiko Watanabe and Miyakawa, {Shun Ichi} and Kumiko Kajiwara and Maiko Matsuda and Kazue Yoshida and Yutaka Shimomura and Hironori Niizeki",

year = "2014",

month = dec,

day = "1",

doi = "10.1111/1346-8138.12701",

language = "English",

volume = "41",

pages = "1110--1112",

journal = "Journal of Dermatology",

issn = "0385-2407",

publisher = "Wiley-Blackwell",

number = "12",

}

TY - JOUR

T1 - Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs∗36) underlies hypohidrotic ectodermal dysplasia in a Japanese family

AU - Kurihara, Yuichi

AU - Hayashi, Ryota

AU - Watanabe, Emiko

AU - Miyakawa, Shun Ichi

AU - Kajiwara, Kumiko

AU - Matsuda, Maiko

AU - Yoshida, Kazue

AU - Shimomura, Yutaka

AU - Niizeki, Hironori

PY - 2014/12/1

Y1 - 2014/12/1

UR - http://www.scopus.com/inward/record.url?scp=84915746559&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84915746559&partnerID=8YFLogxK

U2 - 10.1111/1346-8138.12701

DO - 10.1111/1346-8138.12701

M3 - Letter

C2 - 25438642

AN - SCOPUS:84915746559

SN - 0385-2407

VL - 41

SP - 1110

EP - 1112

JO - Journal of Dermatology

JF - Journal of Dermatology

IS - 12

ER -

Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs∗36) underlies hypohidrotic ectodermal dysplasia in a Japanese family

ASJC Scopus subject areas

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