Art
J-GLOBAL ID：201802220549383810   Reference number：18A0183794

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy

TAZの新規変異は心筋症のないミトコンドリア呼吸鎖異常症を誘発する
Author (13)：
BORNA Nurun Nahar

About BORNA Nurun Nahar

(Saitama Medical Univ., Saitama)

About Saitama Medical Univ., Saitama

, 
KISHITA Yoshihito

About KISHITA Yoshihito

(Saitama Medical Univ., Saitama)

About Saitama Medical Univ., Saitama

, 
KISHITA Yoshihito

About KISHITA Yoshihito

(Juntendo Univ., Tokyo)

About Juntendo Univ., Tokyo

, 
ISHIKAWA Kaori

About ISHIKAWA Kaori

(Univ. Tsukuba, Tsukuba)

About Univ. Tsukuba, Tsukuba

, 
NAKADA Kazuto

About NAKADA Kazuto

(Univ. Tsukuba, Tsukuba)

About Univ. Tsukuba, Tsukuba

, 
KOHDA Masakazu

About KOHDA Masakazu

(Juntendo Univ., Tokyo)

About Juntendo Univ., Tokyo

, 
KOHDA Masakazu

About KOHDA Masakazu

(Saitama Medical Univ., Saitama)

About Saitama Medical Univ., Saitama

, 
NASU Takashi

About NASU Takashi

(Obihiro Kosei General Hospital, Obihiro)

About Obihiro Kosei General Hospital, Obihiro

, 
TAKEDA Atsuhito

About TAKEDA Atsuhito

(Hokkaido Univ. Graduate School of Medicine, Hokkaido)

About Hokkaido Univ. Graduate School of Medicine, Hokkaido

, 
MURAYAMA Kei

About MURAYAMA Kei

(Chiba Children’s Hospital, Chiba)

About Chiba Children’s Hospital, Chiba

, 
OHTAKE Akira

About OHTAKE Akira

(Saitama Medical Univ., Saitama)

About Saitama Medical Univ., Saitama

, 
OKAZAKI Yasushi

About OKAZAKI Yasushi

(Juntendo Univ., Tokyo)

About Juntendo Univ., Tokyo

, 
OKAZAKI Yasushi

About OKAZAKI Yasushi

(Saitama Medical Univ., Saitama)

About Saitama Medical Univ., Saitama


Material：
日本先天代謝異常学会雑誌  (Japanese Journal for Inherited Metabolic Diseases)

About 日本先天代謝異常学会雑誌


Volume： 33  Page： 213  Publication year： Sep. 12, 2017 
JST Material Number： X0006A  ISSN： 0912-0122  Document type： Article
Article type： 会議録記事  Country of issue： Japan (JPN)  Language： ENGLISH (EN)
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human

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,...
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Thesaurus term/Semi thesaurus term
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genetic variation

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JST classification (1)：
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Category name(code) classified by JST.
Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

Terms in the title (5)：
Terms in the title
Keywords automatically extracted from the title.
TAZ

About TAZ

, 
変異

About 変異

, 
心筋症

About 心筋症

, 
ミトコンドリア呼吸鎖異常症

About ミトコンドリア呼吸鎖異常症

, 
誘発

About 誘発


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