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Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W)...

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Foilsithe in:Mol Pain
Main Authors: Deng, Hao, He, Dan, Rong, Pengfei, Xu, Hongbo, Yuan, Lamei, Li, Liu, Lu, Qian, Guo, Yi
Formáid: Artigo
Teanga:Inglês
Foilsithe: SAGE Publications 2016
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4955969/
https://ncbi.nlm.nih.gov/pubmed/27325559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1744806916652628
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