Ontology highlight
ABSTRACT:
SUBMITTER: Jung YK
PROVIDER: S-EPMC6383696 | biostudies-other | 2019 Feb
REPOSITORIES: biostudies-other
Jung Youn-Kwan YK Kwon Ki-Tae KT Jang Ji-Ae JA Han Min-Su MS Kim Gun-Woo GW Han Seungwoo S
JBMR plus 20180716 2
The autosomal dominant osteopetrosis type II (ADOII) caused by the mutation of chloride channel 7 (ClC-7) gene is the most common form of adult-onset osteopetrosis. Despite dysfunctional bone resorption, an augmented osteoclast differentiation was reported recently in ADOII patients. DNA sequencing analysis of the ADOII patient's <i>ClC-7</i> gene identified a known heterozygous mutation, c.643G>A in exon 7, encoding p.Gly215Arg. In vitro osteoclast differentiation from the ADOII patient's perip ...[more]