Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6

Kazumitsu Sugiura; Yasushi Suga; Masashi Akiyama

doi:10.1016/j.jdermsci.2014.05.009

Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6

Kazumitsu Sugiura, Yasushi Suga, 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）	199-201
ページ数	3
ジャーナル	Journal of Dermatological Science
巻	75
号	3
DOI	https://doi.org/10.1016/j.jdermsci.2014.05.009
出版ステータス	出版済み - 09-2014
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.2014.05.009

他のファイルとリンク

引用スタイル

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title = "Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6",

author = "Kazumitsu Sugiura and Yasushi Suga and Masashi Akiyama",

note = "Funding Information: The authors thank Ms. Haruka Ozeki and Ms. Yuka Terashita for their technical help in analyzing mutations of ABHD5. This study was supported in part by Grant-in-Aid for Scientific Research (A) 23249058 (M.A.) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan .",

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TY - JOUR

T1 - Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6

AU - Sugiura, Kazumitsu

AU - Suga, Yasushi

AU - Akiyama, Masashi

N1 - Funding Information: The authors thank Ms. Haruka Ozeki and Ms. Yuka Terashita for their technical help in analyzing mutations of ABHD5. This study was supported in part by Grant-in-Aid for Scientific Research (A) 23249058 (M.A.) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan .

PY - 2014/9

Y1 - 2014/9

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U2 - 10.1016/j.jdermsci.2014.05.009

DO - 10.1016/j.jdermsci.2014.05.009

M3 - Letter

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AN - SCOPUS:84904957507

SN - 0923-1811

VL - 75

SP - 199

EP - 201

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

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