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ID 115136
タイトル別表記
Novel PTCH1 mutation in Gorlin syndrome
著者
Okamoto, Nana Kobe University
成戸, 卓也 The University of Tokushima KAKEN研究者をさがす
Kohmoto, Tomohiro The University of Tokushima
Komori, Takahide Kobe University
井本, 逸勢 The University of Tokushima KAKEN研究者をさがす
資料タイプ
学術雑誌論文
抄録
Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer to analyze genes associated with known clinical phenotypes in an 11-year-old male with sporadic jaw keratocysts. A novel duplication mutation (c.426dup) in PTCH1, resulting in a truncated protein, was identified.
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
1
開始ページ
14022
発行日
2014-11-13
権利情報
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported 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/3.0/
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言語
eng
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出版社版
部局
医学系