Art
J-GLOBAL ID：201902250027391550   Reference number：19A2686788

Whole-exome sequencing facilitated genetic diagnosis of a patient with dystrophic epidermolysis bullosa

全エクソームシークエンシングは栄養障害性表皮水疱症患者の遺伝子診断を促進した
Author (6)：
ITO Yasutoshi

About ITO Yasutoshi

(Nagoya Univ. Graduate School of Medicine, Nagoya, JPN)

About Nagoya Univ. Graduate School of Medicine, Nagoya, JPN

, 
TAKEICHI Takuya

About TAKEICHI Takuya

(Nagoya Univ. Graduate School of Medicine, Nagoya, JPN)

About Nagoya Univ. Graduate School of Medicine, Nagoya, JPN

, 
NATSUGA Ken

About NATSUGA Ken

(Hokkaido Univ. Fac. Medicine and Graduate school of Medicine, Sapporo, JPN)

About Hokkaido Univ. Fac. Medicine and Graduate school of Medicine, Sapporo, JPN

, 
NAKAMURA Hideki

About NAKAMURA Hideki

(Hokkaido Univ. Fac. Medicine and Graduate school of Medicine, Sapporo, JPN)

About Hokkaido Univ. Fac. Medicine and Graduate school of Medicine, Sapporo, JPN

, 
OGI Tomoo

About OGI Tomoo

(Nagoya Univ., Nagoya, JPN)

About Nagoya Univ., Nagoya, JPN

, 
AKIYAMA Masashi

About AKIYAMA Masashi

(Nagoya Univ. Graduate School of Medicine, Nagoya, JPN)

About Nagoya Univ. Graduate School of Medicine, Nagoya, JPN


Material：
日本研究皮膚科学会年次学術大会・総会プログラム  (Program. Annual Meeting of the Japanese Society for Investigative Dermatology)

About 日本研究皮膚科学会年次学術大会・総会プログラム


Volume： 44th  Page： 232  Publication year： Oct. 03, 2019 
JST Material Number： L5852A  Document type： Proceedings
Article type： 会議録記事  Country of issue： Japan (JPN)  Language： ENGLISH (EN)
Thesaurus term：
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human(primates)

About human(primates)

,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
*Epidermolysis Bullosa Dystrophica

About Epidermolysis Bullosa Dystrophica

,...
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JST classification (3)：
JST classification
Category name(code) classified by JST.
Skin diseases 
(GF03000Q)

About Skin diseases

,  Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

,  Molecular genetics in general 
(EC02010J)

About Molecular genetics in general

Terms in the title (5)：
Terms in the title
Keywords automatically extracted from the title.
全エクソームシークエンシング

About 全エクソームシークエンシング

, 
栄養障害性表皮水疱症

About 栄養障害性表皮水疱症

, 
患者

About 患者

, 
遺伝子診断

About 遺伝子診断

, 
促進

About 促進


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