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ID 115120
Title Alternative
Novel CLCN7 mutations in IARO
Author
Okamoto, Nana Kobe University
Kohmoto, Tomohiro Tokushima University
Komori, Takahide Kobe University
Content Type
Journal Article
Description
Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.
Journal Title
Human Genome Variation
ISSN
2054345X
Publisher
Springer Nature
Volume
4
Start Page
17036
Published Date
2017-08-17
Rights
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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language
eng
TextVersion
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departments
Medical Sciences