Ontology highlight
ABSTRACT:
SUBMITTER: Deng H
PROVIDER: S-EPMC4955969 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Deng Hao H He Dan D Rong Pengfei P Xu Hongbo H Yuan Lamei L Li Liu L Lu Qian Q Guo Yi Y
Molecular pain 20160101
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) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder in the family but was not observed in 800 controls. The data indicate that exome sequencing is a powerf ...[more]