Published August 3, 2015 - More info
Dyskeratosis congenita (DC) is an inherited BM failure disorder that is associated with mutations in genes involved with telomere function and maintenance; however, the genetic cause of many instances of DC remains uncharacterized. In this issue of the
Philip J. Mason, Monica Bessler
Original citation: J Clin Invest. 2015;125(5):1796–1798. doi:10.1172/JCI81506.
Citation for this corrigendum: J Clin Invest. 2015;125(8):3304. doi:10.1172/JCI82903.
The missense variant given was incorrect. The correct sentence is below.
In one family, a brother and a sister were both homozygous for a missense mutation that results in an A to V substitution at amino acid 383 (PARNA383V), which is in a conserved domain of the protein that is essential for nuclease activity.
The authors regret the error.