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

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

26 Citations (Scopus)

Original language	English
Pages (from-to)	875-878
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	136
Issue number	4
DOIs	https://doi.org/10.1016/j.jid.2015.12.034
Publication status	Published - 2016
Externally published	Yes

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Dermatology
Cell Biology

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10.1016/j.jid.2015.12.034

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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, 136(4), 875-878. https://doi.org/10.1016/j.jid.2015.12.034

Kono, Michihiro ; Matsumoto, Fumihiro ; Suzuki, Yasuhiro ; Suganuma, Mutsumi ; Saitsu, Hirotomo ; Ito, Yasutomo ; Fujiwara, Sakuhei ; Moriwaki, Shinichi ; Matsumoto, Kazuhiko ; Matsumoto, Naomichi ; Tomita, Yasushi ; Sugiura, Kazumitsu ; Akiyama, Masashi. / Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. In: Journal of Investigative Dermatology. 2016 ; Vol. 136, No. 4. pp. 875-878.

@article{127dc96dd13e4850a1d8f48c1a58ea96,

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",

volume = "136",

pages = "875--878",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Nature Publishing Group",

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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

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. / Kono, Michihiro; Matsumoto, Fumihiro; Suzuki, Yasuhiro; Suganuma, Mutsumi; Saitsu, Hirotomo; Ito, Yasutomo; Fujiwara, Sakuhei; Moriwaki, Shinichi; Matsumoto, Kazuhiko; Matsumoto, Naomichi; Tomita, Yasushi; Sugiura, Kazumitsu; Akiyama, Masashi.

In: Journal of Investigative Dermatology, Vol. 136, No. 4, 2016, p. 875-878.

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

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

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UR - http://www.scopus.com/inward/citedby.url?scp=84978162008&partnerID=8YFLogxK

U2 - 10.1016/j.jid.2015.12.034

DO - 10.1016/j.jid.2015.12.034

M3 - Article

C2 - 26802932

AN - SCOPUS:84978162008

VL - 136

SP - 875

EP - 878

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

SN - 0022-202X

IS - 4

ER -

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

All Science Journal Classification (ASJC) codes

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