COL1 C-propeptide Cleavage Site Mutations Cause High Bone Mass Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is most often caused by mutations in the type I procollagen genes (COL1A1/COL1A2). We identified two children with substitutions in the type I procollagen C-propeptide cleavage site, which disrupt a unique processing step in collagen maturation and define a novel phenoty...

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Bibliografische gegevens
Hoofdauteurs: Lindahl, Katarina, Barnes, Aileen M., Fratzl-Zelman, Nadja, Whyte, Michael P., Hefferan, Theresa E., Makareeva, Elena, Brusel, Marina, Yaszemski, Michael J., Rubin, Carl-Johan, Kindmark, Andreas, Roschger, Paul, Klaushofer, Klaus, McAlister, William H., Mumm, Steven, Leikin, Sergey, Kessler, Efrat, Boskey, Adele L., Ljunggren, Östen, Marini, Joan C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2011
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3103631/
https://ncbi.nlm.nih.gov/pubmed/21344539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21475
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