Art
J-GLOBAL ID：201702258431335888   Reference number：17A0283796

The p.S178L mutation in TBC1D24 lead to dominant, non-syndromic hearing impairment through a gain-of-function mechanism

TBC1D24のp.S178L変異が機能獲得機構によりドミナント非症候群性難聴をもたらす
Author (6)：
YANG Tao

About YANG Tao

(Shanghai Jiaotong Univ. School of Medicine, CHN)

About Shanghai Jiaotong Univ. School of Medicine, CHN

, 
ZHANG Luping

About ZHANG Luping

(Shanghai Jiaotong Univ. School of Medicine, CHN)

About Shanghai Jiaotong Univ. School of Medicine, CHN

, 
HU Linxiang

About HU Linxiang

(Shanghai Jiaotong Univ. School of Medicine, CHN)

About Shanghai Jiaotong Univ. School of Medicine, CHN

, 
PANG Xiuhong

About PANG Xiuhong

(Shanghai Jiaotong Univ. School of Medicine, CHN)

About Shanghai Jiaotong Univ. School of Medicine, CHN

, 
CHEN Penghui

About CHEN Penghui

(Shanghai Jiaotong Univ. School of Medicine, CHN)

About Shanghai Jiaotong Univ. School of Medicine, CHN

, 
WU Hao

About WU Hao

(Shanghai Jiaotong Univ. School of Medicine, CHN)

About Shanghai Jiaotong Univ. School of Medicine, CHN


Material：
日本人類遺伝学会大会プログラム・抄録集  (日本人類遺伝学会大会)

About 日本人類遺伝学会大会プログラム・抄録集


Volume： 61st(Web)  Page： ROMBUNNO.Tue(3)-O23-3 (WEB ONLY)  Publication year： 2016 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)
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.
*Deafness

About Deafness

,...
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.
*TBC1D24遺伝子

About TBC1D24遺伝子

,...
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JST classification (3)：
JST classification
Category name(code) classified by JST.
Genetic variation 
(EC01030Y)

About Genetic variation

,  Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

,  Basic otorhinolaryngology 
(GQ01020F)

About Basic otorhinolaryngology

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

About 変異

, 
獲得

About 獲得

, 
ドミナント

About ドミナント

, 
症候群

About 症候群

, 
難聴

About 難聴


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