A novel nonsense mutation c.424G>T (p. G142X) in the first exon of XLas leading to osteopetrosis
Xiang Chen, Yang Meng, Ying Xie, Shan Wan, Li Li, Jie Zhang, Bo Su, Xijie Yu
The paper reports a novel nonsense mutation in XLas causing osteopetrosis and high bone mass by disrupting the skeletal response to parathyroid hormone.
bioRxiv · Dec 27, 2018 · PreprintGenetics