Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations

Michihiro Kono; Fumihiro Matsumoto; Yasuhiro Suzuki; Mutsumi Suganuma; Hirotomo Saitsu; Yasutomo Ito; Sakuhei Fujiwara; Shinichi Moriwaki; Kazuhiko Matsumoto; Naomichi Matsumoto; Yasushi Tomita; Kazumitsu Sugiura; Masashi Akiyama

doi:10.1016/j.jid.2015.12.034

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations

Michihiro Kono
, Fumihiro Matsumoto
, Yasuhiro Suzuki
, Mutsumi Suganuma
, Hirotomo Saitsu
, Yasutomo Ito
, Sakuhei Fujiwara
, Shinichi Moriwaki
, Kazuhiko Matsumoto
, Naomichi Matsumoto
, Yasushi Tomita
, Kazumitsu Sugiura
, Masashi Akiyama

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

本文言語	英語
ページ（範囲）	875-878
ページ数	4
ジャーナル	Journal of Investigative Dermatology
巻	136
号	4
DOI	https://doi.org/10.1016/j.jid.2015.12.034
出版ステータス	出版済み - 2016
外部発表	はい

All Science Journal Classification (ASJC) codes

生化学
分子生物学
皮膚病学
細胞生物学

文献へのアクセス

10.1016/j.jid.2015.12.034

他のファイルとリンク

引用スタイル

Kono, M., Matsumoto, F., Suzuki, Y., Suganuma, M., Saitsu, H., Ito, Y., Fujiwara, S., Moriwaki, S., Matsumoto, K., Matsumoto, N., Tomita, Y., Sugiura, K., & Akiyama, M. (2016). Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. Journal of Investigative Dermatology, 136(4), 875-878. https://doi.org/10.1016/j.jid.2015.12.034

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title = "Dyschromatosis Symmetrica Hereditaria and Aicardi-Gouti{\`e}res Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations",

author = "Michihiro Kono and Fumihiro Matsumoto and Yasuhiro Suzuki and Mutsumi Suganuma and Hirotomo Saitsu and Yasutomo Ito and Sakuhei Fujiwara and Shinichi Moriwaki and Kazuhiko Matsumoto and Naomichi Matsumoto and Yasushi Tomita and Kazumitsu Sugiura and Masashi Akiyama",

note = "Funding Information: We are grateful to the patient{\textquoteright}s family and the volunteers for providing blood samples. This work was supported in part by Grants-in-Aid for Scientific Research (C) 24591646 to MK from the Ministry of Education, Culture, Sports, Science and Technology of Japan. ",

year = "2016",

doi = "10.1016/j.jid.2015.12.034",

language = "English",

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Kono, M, Matsumoto, F, Suzuki, Y, Suganuma, M, Saitsu, H, Ito, Y, Fujiwara, S, Moriwaki, S, Matsumoto, K, Matsumoto, N, Tomita, Y, Sugiura, K & Akiyama, M 2016, 'Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations', Journal of Investigative Dermatology, vol. 136, no. 4, pp. 875-878. https://doi.org/10.1016/j.jid.2015.12.034

TY - JOUR

T1 - Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations

AU - Kono, Michihiro

AU - Matsumoto, Fumihiro

AU - Suzuki, Yasuhiro

AU - Suganuma, Mutsumi

AU - Saitsu, Hirotomo

AU - Ito, Yasutomo

AU - Fujiwara, Sakuhei

AU - Moriwaki, Shinichi

AU - Matsumoto, Kazuhiko

AU - Matsumoto, Naomichi

AU - Tomita, Yasushi

AU - Sugiura, Kazumitsu

AU - Akiyama, Masashi

N1 - Funding Information: We are grateful to the patient’s family and the volunteers for providing blood samples. This work was supported in part by Grants-in-Aid for Scientific Research (C) 24591646 to MK from the Ministry of Education, Culture, Sports, Science and Technology of Japan.

PY - 2016

Y1 - 2016

UR - https://www.scopus.com/pages/publications/84978162008

UR - https://www.scopus.com/pages/publications/84978162008#tab=citedBy

U2 - 10.1016/j.jid.2015.12.034

DO - 10.1016/j.jid.2015.12.034

M3 - Article

C2 - 26802932

AN - SCOPUS:84978162008

SN - 0022-202X

VL - 136

SP - 875

EP - 878

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 4

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