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ID 115132
タイトル別表記
Novel COL5A2 mutation in Ehlers–Danlos syndrome
著者
Watanabe, Miki Tokushima University
Kohmoto, Tomohiro Tokushima University
資料タイプ
学術雑誌論文
抄録
Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
3
開始ページ
16030
発行日
2016-09-15
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
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出版社版
部局
病院
医学系