A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient

T. Takeichi; C. Katayama; T. Tanaka; Y. Okuno; N. Murakami; M. Kono; K. Sugiura; Y. Aoyama; M. Akiyama

doi:10.1111/bjd.15869

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient

T. Takeichi
, C. Katayama
, T. Tanaka
, Y. Okuno
, N. Murakami
, M. Kono
, K. Sugiura
, Y. Aoyama
, M. Akiyama

研究成果: ジャーナルへの寄稿 › Letter › 査読

本文言語	英語
ページ（範囲）	e111-e113
ジャーナル	British Journal of Dermatology
巻	178
号	2
DOI	https://doi.org/10.1111/bjd.15869
出版ステータス	出版済み - 02-2018
外部発表	はい

All Science Journal Classification (ASJC) codes

皮膚病学

文献へのアクセス

10.1111/bjd.15869

他のファイルとリンク

引用スタイル

@article{aa26235dd0d54efb9aeefeca847bbe46,

title = "A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Gouti{\`e}res and Singleton–Merten syndromes in a single patient",

author = "T. Takeichi and C. Katayama and T. Tanaka and Y. Okuno and N. Murakami and M. Kono and K. Sugiura and Y. Aoyama and M. Akiyama",

note = "Funding Information: This work was supported by funding from Advanced Research and Development Programs for Medical Innovation (AMED-CREST) to M.A. from Japan Agency for Medical Research and Development (AMED). This work was also supported by a Grant-in-Aid for Scientific Research (B) 15H04887 to M.A., and by a Grant-in-Aid for Young Scientists (B) 16K19717 to T.T. from the Japan Society for the Promotion of Science (JSPS). Funding Information: This work was supported by funding from Advanced Research and Development Programs for Medical Innovation (AMED- Funding Information: CREST) to M.A. from Japan Agency for Medical Research and Development (AMED). This work was also supported by a Grant-in-Aid for Scientific Research (B) 15H04887 to M.A., and by a Grant-in-Aid for Young Scientists (B) 16K19717 to T.T. from the Japan Society for the Promotion of Science (JSPS).",

year = "2018",

month = feb,

doi = "10.1111/bjd.15869",

language = "English",

volume = "178",

pages = "e111--e113",

journal = "British Journal of Dermatology",

issn = "0007-0963",

publisher = "Oxford University Press",

number = "2",

}

TY - JOUR

T1 - A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient

AU - Takeichi, T.

AU - Katayama, C.

AU - Tanaka, T.

AU - Okuno, Y.

AU - Murakami, N.

AU - Kono, M.

AU - Sugiura, K.

AU - Aoyama, Y.

AU - Akiyama, M.

N1 - Funding Information: This work was supported by funding from Advanced Research and Development Programs for Medical Innovation (AMED-CREST) to M.A. from Japan Agency for Medical Research and Development (AMED). This work was also supported by a Grant-in-Aid for Scientific Research (B) 15H04887 to M.A., and by a Grant-in-Aid for Young Scientists (B) 16K19717 to T.T. from the Japan Society for the Promotion of Science (JSPS). Funding Information: This work was supported by funding from Advanced Research and Development Programs for Medical Innovation (AMED- Funding Information: CREST) to M.A. from Japan Agency for Medical Research and Development (AMED). This work was also supported by a Grant-in-Aid for Scientific Research (B) 15H04887 to M.A., and by a Grant-in-Aid for Young Scientists (B) 16K19717 to T.T. from the Japan Society for the Promotion of Science (JSPS).

PY - 2018/2

Y1 - 2018/2

UR - https://www.scopus.com/pages/publications/85038868472

UR - https://www.scopus.com/pages/publications/85038868472#tab=citedBy

U2 - 10.1111/bjd.15869

DO - 10.1111/bjd.15869

M3 - Letter

C2 - 29270977

AN - SCOPUS:85038868472

SN - 0007-0963

VL - 178

SP - e111-e113

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 2

ER -