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Entre les lignes, ISSN 1710-8004, 2008, Volume 5, Issue 1, pp. 9 - 9
Journal Article
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, ISSN 1552-4868, 2017, Volume 175, Issue 1, pp. 8 - 26
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2016, Volume 18, Issue 1, pp. 20 - 24
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 411 - 419
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At... 
COPII | bone | OASIS | osteogenesis imperfecta | CREB3L1 | Binding sites | bone development | secretion
Journal Article
Journal Article
by Waterston, Robert H and Lindblad-Toh, Kerstin and Birney, Ewan and Rogers, Jane and Abril, Josep F and Agarwal, Pankaj and Agarwala, Richa and Ainscough, Rachel and Alexandersson, Marina and An, Peter and Antonarakis, Stylianos E and Attwood, John and Baertsch, Robert and Bailey, Jonathon and Barlow, Karen and Beck, Stephan and Berry, Eric and Birren, Bruce and Bloom, Toby and Bork, Peer and Botcherby, Marc and Bray, Nicolas and Brent, Michael R and Brown, Daniel G and Brown, Stephen D and Bult, Carol and Burton, John and Butler, Jonathan and Campbell, Robert D and Carninci, Piero and Cawley, Simon and Chiaromonte, Francesca and Chinwalla, Asif T and Church, Deanna M and Clamp, Michele and Clee, Christopher and Collins, Francis S and Cook, Lisa L and Copley, Richard R and Coulson, Alan and Couronne, Olivier and Cuff, James and Curwen, Val and Cutts, Tim and Daly, Mark and David, Robert and Davies, Joy and Delehaunty, Kimberly D and Deri, Justin and Dermitzakis, Emmanouil T and Dewey, Colin and Dickens, Nicholas J and Diekhans, Mark and Dodge, Sheila and Dubchak, Inna and Dunn, Diane M and Eddy, Sean R and Elnitski, Laura and Emes, Richard D and Eswara, Pallavi and Eyras, Eduardo and Felsenfeld, Adam and Fewell, Ginger A and Flicek, Paul and Foley, Karen and Frankel, Wayne N and Fulton, Lucinda A and Fulton, Robert S and Furey, Terrence S and Gage, Diane and Gibbs, Richard A and Glusman, Gustavo and Gnerre, Sante and Goldman, Nick and Goodstadt, Leo and Grafham, Darren and Graves, Tina A and Green, Eric D and Gregory, Simon and Guigó, Roderic and Guyer, Mark and Hardison, Ross C and Haussler, David and Hayashizaki, Yoshihide and LaHillier, Deana W and Hinrichs, Angela and Hlavina, Wratko and Holzer, Timothy and Hsu, Fan and Hua, Axin and Hubbard, Tim and Hunt, Adrienne and Jackson, Ian and Jaffe, David B and Johnson, L. Steven and Jones, Matthew and Jones, Thomas A and Joy, Ann and Kamal, Michael and Karlsson, Elinor K and ... and Mouse Genome Sequencing Consor and Mouse Genome Sequencing Consortium and Joint Genome Institute (JGI) and Naturvetenskapliga fakulteten and Department of Mathematical Statistics and Institutionen för matematisk statistik and Faculty of Sciences and Göteborgs universitet and Gothenburg University
Nature, ISSN 0028-0836, 12/2002, Volume 420, Issue 6915, pp. 520 - 562
Journal Article