COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC.
Lindahl K, et al. Among authors: marini jc.
Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr 7.
Hum Mutat. 2011.
PMID: 21344539
Free PMC article.