GeneticsbioRxivPreprint
A novel nonsense mutation c.424G>T (p. G142X) in the first exon of XLas leading to osteopetrosis
Xiang Chen, Yang Meng, Ying Xie…·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.
DOI 10.1101/507111