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Items: 4

1.
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization
Nadja Fratzl-Zelman, Aileen M. Barnes, MaryAnn Weis, Erin Carter, Theresa E. Hefferan, Giorgio Perino, Weizhong Chang, Peter A. Smith, Paul Roschger, Klaus Klaushofer, Francis H. Glorieux, David R. Eyre, Cathleen Raggio, Frank Rauch, Joan C. Marini
J Clin Endocrinol Metab. 2016 Sep; 101(9): 3516–3525. Published online 2016 Jul 6. doi: 10.1210/jc.2016-1334
PMCID:
PMC5010570
AbstractArticle
2.
An Additional Function of the Rough Endoplasmic Reticulum Protein Complex Prolyl 3-Hydroxylase 1·Cartilage-associated Protein·Cyclophilin B: THE CXXXC MOTIF REVEALS DISULFIDE ISOMERASE ACTIVITY IN VITRO
Yoshihiro Ishikawa, Hans Peter Bächinger
J Biol Chem. 2013 Nov 1; 288(44): 31437–31446. Published online 2013 Sep 16. doi: 10.1074/jbc.M113.498063
PMCID:
PMC3814740
AbstractArticlePDF–1.2M
3.
A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta
Masaki Takagi, Tomohiro Ishii, Aileen M. Barnes, MaryAnn Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R. Eyre, Joan C. Marini, Tomonobu Hasegawa
PLoS One. 2012; 7(5): e36809. Published online 2012 May 15. doi: 10.1371/journal.pone.0036809
PMCID:
PMC3352923
AbstractArticlePDF–1.8M
4.
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
Fleur S van Dijk, Peter H Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A Sistermans, Gerard Pals
Eur J Hum Genet. 2012 Jan; 20(1): 11–19. Published online 2011 Aug 10. doi: 10.1038/ejhg.2011.141
PMCID:
PMC3234509
AbstractArticlePDF–495K

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