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ID 115135
タイトル別表記
Novel CHD7 mutation in CHARGE syndrome
著者
Kohmoto, Tomohiro Tokushima University
Shono, Miki Tokushima University
Watanabe, Miki Tokushima University
資料タイプ
学術雑誌論文
抄録
CHARGE syndrome is a rare autosomal dominant developmental disorder involving multiple organs. CHD7 is a major causative gene of CHARGE syndrome. We performed targeted-exome sequencing using a next-generation sequencer for molecular diagnosis of a 4-month-old male patient who was clinically suspected to have CHARGE syndrome, and report a novel monoallelic mutation in CHD7, NM_017780.3(CHD7_v001):c.2966del causing a reading frameshift [p.(Cys989Serfs*3)].
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
3
開始ページ
16004
発行日
2016-04-07
権利情報
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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言語
eng
著者版フラグ
出版社版
部局
医学系
病院