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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: barnes am. 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.
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. Marini JC, et al. Among authors: barnes am. Hum Mutat. 2007 Mar;28(3):209-21. doi: 10.1002/humu.20429. Hum Mutat. 2007. PMID: 17078022 Free PMC article. Review.
New perspectives on osteogenesis imperfecta.
Forlino A, Cabral WA, Barnes AM, Marini JC. Forlino A, et al. Among authors: barnes am. Nat Rev Endocrinol. 2011 Jun 14;7(9):540-57. doi: 10.1038/nrendo.2011.81. Nat Rev Endocrinol. 2011. PMID: 21670757 Free PMC article. Review.
123 results