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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
- Dr A De Paepe, Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium; anne.depaepe{at}UGent.be
Citation
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
Publication history
- Received August 25, 2008
- Revised October 29, 2008
- Accepted November 14, 2008
- First published December 16, 2008.
Online issue publication
April 27, 2016
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2009 BMJ Publishing Group