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J-GLOBAL ID：202002274379406485   Reference number：20A1679747

Mitochondrial ribosomal protein PTCD3 mutations are novel cause of Leigh syndrome

ミトコンドリアリボソーム蛋白質PTCD3変異はLeigh症候群の新規原因である
Author (11)：
MATSUNAGA Ayako

About MATSUNAGA Ayako

(Chiba Children’s Hospital)

About Chiba Children’s Hospital

, 
SUGIYAMA Yohei

About SUGIYAMA Yohei

(Chiba Children’s Hospital)

About Chiba Children’s Hospital

, 
BORNA Nurun Nahar

About BORNA Nurun Nahar

(Juntendo Univ.)

About Juntendo Univ.

, 
KISHITA Yoshihito

About KISHITA Yoshihito

(Juntendo Univ.)

About Juntendo Univ.

, 
SHIMURA Masaru

About SHIMURA Masaru

(Chiba Children’s Hospital)

About Chiba Children’s Hospital

, 
HISATOMI Yuichiro

About HISATOMI Yuichiro

(Kumamoto City Hospital)

About Kumamoto City Hospital

, 
FUSHIMI Takuya

About FUSHIMI Takuya

(Chiba Children’s Hospital)

About Chiba Children’s Hospital

, 
OKAZAKI Yasushi

About OKAZAKI Yasushi

(Juntendo Univ.)

About Juntendo Univ.

, 
OHTAKE Akira

About OHTAKE Akira

(Saitama Medical Univ.)

About Saitama Medical Univ.

, 
MURAYAMA Kei

About MURAYAMA Kei

(Chiba Children’s Hospital)

About Chiba Children’s Hospital

, 
MURAYAMA Kei

About MURAYAMA Kei

(Juntendo Univ.)

About Juntendo Univ.


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： 35  Page： 165  Publication year： Sep. 20, 2019 
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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*mitochondrial disease

About mitochondrial disease

,...
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*Leigh syndrome

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,...
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JST classification (4)：
JST classification
Category name(code) classified by JST.
Diagnostics of congenital diseases, deformities. 
(GD03020G)

About Diagnostics of congenital diseases, deformities.

,  Diagnostics of metabolic diseases,nutritional diseases. 
(GD05020U)

About Diagnostics of metabolic diseases,nutritional diseases.

,  Neurologic diagnosis 
(GN02000H)

About Neurologic diagnosis

,  Genetic variation 
(EC01030Y)

About Genetic variation

Terms in the title (5)：
Terms in the title
Keywords automatically extracted from the title.
ミトコンドリア

About ミトコンドリア

, 
リボソーム蛋白質

About リボソーム蛋白質

, 
変異

About 変異

, 
Leigh症候群

About Leigh症候群

, 
原因

About 原因


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