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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Detalles Bibliográficos
Autores principales: Deng, Hao, He, Dan, Rong, Pengfei, Xu, Hongbo, Yuan, Lamei, Li, Liu, Lu, Qian, Guo, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955969/
https://www.ncbi.nlm.nih.gov/pubmed/27325559
http://dx.doi.org/10.1177/1744806916652628

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955969/
https://www.ncbi.nlm.nih.gov/pubmed/27325559
http://dx.doi.org/10.1177/1744806916652628

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