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ID 115136
Title Alternative
Novel PTCH1 mutation in Gorlin syndrome
Author
Okamoto, Nana Kobe University
Naruto, Takuya The University of Tokushima KAKEN Search Researchers
Kohmoto, Tomohiro The University of Tokushima
Komori, Takahide Kobe University
Imoto, Issei The University of Tokushima KAKEN Search Researchers
Content Type
Journal Article
Description
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.
Journal Title
Human Genome Variation
ISSN
2054345X
Publisher
Springer Nature
Volume
1
Start Page
14022
Published Date
2014-11-13
Rights
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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DOI (Published Version)
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language
eng
TextVersion
Publisher
departments
Medical Sciences