A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution

Emi Nomura; Yasuyuki Ohta; Koh Tadokoro; Kota Sato; Ryo Sasaki; Yoshiaki Takahashi; Toru Yamashita; Mami Takemoto; Nozomi Hishikawa; Yu ichi Goto; Koji Abe

doi:10.1016/j.jns.2019.03.029

A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution

Emi Nomura, Yasuyuki Ohta, Koh Tadokoro, Kota Sato, Ryo Sasaki, Yoshiaki Takahashi, Toru Yamashita, Mami Takemoto, Nozomi Hishikawa, Yu ichi Goto, Koji Abe

研究成果 › 査読

1 被引用数 (Scopus)

本文言語	English
ページ（範囲）	145-147
ページ数	3
ジャーナル	Journal of the neurological sciences
巻	400
DOI	https://doi.org/10.1016/j.jns.2019.03.029
出版ステータス	Published - 5月 15 2019

ASJC Scopus subject areas

神経学
臨床神経学

文献へのアクセス

10.1016/j.jns.2019.03.029

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引用スタイル

@article{9bd5df8ed7854d09ac65849cb8a54dc0,

title = "A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution",

keywords = "CPEO, Homozygous, Mitochondrial DNA",

author = "Emi Nomura and Yasuyuki Ohta and Koh Tadokoro and Kota Sato and Ryo Sasaki and Yoshiaki Takahashi and Toru Yamashita and Mami Takemoto and Nozomi Hishikawa and Goto, {Yu ichi} and Koji Abe",

note = "Funding Information: We appreciate the cooperation of the patients. This work was partly supported by a Grant-in-Aid for Scientific Research (B) 17H0419619 , (C) 15K0931607 , 17H0419619 and 17K1082709 , and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) of the Japan Agency for Medical Research and Development (AMED).",

year = "2019",

month = may,

day = "15",

doi = "10.1016/j.jns.2019.03.029",

language = "English",

volume = "400",

pages = "145--147",

journal = "Journal of the Neurological Sciences",

issn = "0022-510X",

publisher = "Elsevier",

}

TY - JOUR

T1 - A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution

AU - Nomura, Emi

AU - Ohta, Yasuyuki

AU - Tadokoro, Koh

AU - Sato, Kota

AU - Sasaki, Ryo

AU - Takahashi, Yoshiaki

AU - Yamashita, Toru

AU - Takemoto, Mami

AU - Hishikawa, Nozomi

AU - Goto, Yu ichi

AU - Abe, Koji

N1 - Funding Information: We appreciate the cooperation of the patients. This work was partly supported by a Grant-in-Aid for Scientific Research (B) 17H0419619 , (C) 15K0931607 , 17H0419619 and 17K1082709 , and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) of the Japan Agency for Medical Research and Development (AMED).

PY - 2019/5/15

Y1 - 2019/5/15

KW - CPEO

KW - Homozygous

KW - Mitochondrial DNA

UR - http://www.scopus.com/inward/record.url?scp=85063682313&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85063682313&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2019.03.029

DO - 10.1016/j.jns.2019.03.029

M3 - Letter

C2 - 30951992

AN - SCOPUS:85063682313

SN - 0022-510X

VL - 400

SP - 145

EP - 147

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

ER -

A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution

ASJC Scopus subject areas

文献へのアクセス

他のファイルとリンク

引用スタイル

A unique Japanese CPEO family with a novel homozygous m.14819 T > G (p. S25A) substitution