Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

Takuya Takeichi; Kazumitsu Sugiura; Simon Tso; Michael A. Simpson; John A. McGrath; Masashi Akiyama

doi:10.1016/j.jdermsci.2015.10.015

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

Takuya Takeichi, Kazumitsu Sugiura, Simon Tso, Michael A. Simpson, John A. McGrath, Masashi 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）	134-136
ページ数	3
ジャーナル	Journal of Dermatological Science
巻	81
号	2
DOI	https://doi.org/10.1016/j.jdermsci.2015.10.015
出版ステータス	出版済み - 01-02-2016
外部発表	はい

All Science Journal Classification (ASJC) codes

生化学
分子生物学
皮膚病学

文献へのアクセス

10.1016/j.jdermsci.2015.10.015

他のファイルとリンク

引用スタイル

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title = "Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome",

author = "Takuya Takeichi and Kazumitsu Sugiura and Simon Tso and Simpson, {Michael A.} and McGrath, {John A.} and Masashi Akiyama",

note = "Funding Information: The authors thank Ms. Haruka Ozeki and Ms. Yuka Terashita for their technical help in analysing mutations of ABHD5. This study was supported in part by a Grant-in-Aid for Scientific Research (B) to M.A. (15H04887), a Grant-in-Aid for Challenging Exploratory Research to M.A. (15K15415), a Grant-in-Aid for Scientific Research (B) to K.S. (15H04886) and a Grant-in-Aid for Challenging Exploratory Research to K.S. (15K15414) from the Ministry of Education, Culture, Sports, Science and Technology of Japan. The study is also supported by the UK National Institute for Health Research (NIHR), Biomedical Research Centre based at Guy{\textquoteright}s and St Thomas{\textquoteright}, NHS Foundation Trust and King{\textquoteright}s College London. ",

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doi = "10.1016/j.jdermsci.2015.10.015",

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T1 - Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

AU - Takeichi, Takuya

AU - Sugiura, Kazumitsu

AU - Tso, Simon

AU - Simpson, Michael A.

AU - McGrath, John A.

AU - Akiyama, Masashi

N1 - Funding Information: The authors thank Ms. Haruka Ozeki and Ms. Yuka Terashita for their technical help in analysing mutations of ABHD5. This study was supported in part by a Grant-in-Aid for Scientific Research (B) to M.A. (15H04887), a Grant-in-Aid for Challenging Exploratory Research to M.A. (15K15415), a Grant-in-Aid for Scientific Research (B) to K.S. (15H04886) and a Grant-in-Aid for Challenging Exploratory Research to K.S. (15K15414) from the Ministry of Education, Culture, Sports, Science and Technology of Japan. The study is also supported by the UK National Institute for Health Research (NIHR), Biomedical Research Centre based at Guy’s and St Thomas’, NHS Foundation Trust and King’s College London.

PY - 2016/2/1

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