Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to BiallelicBMP1Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta-Reference-Cited by-同舟云学术

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to BiallelicBMP1Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

Published:2015-05-21 Issue:8 Volume:30 Page:1445-1456
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Syx Delfien¹,Guillemyn Brecht¹,Symoens Sofie¹,Sousa Ana Berta²,Medeira Ana²,Whiteford Margo³,Hermanns-Lê Trinh⁴,Coucke Paul J¹,De Paepe Anne¹,Malfait Fransiska¹

Affiliation:

1. Center for Medical Genetics; Ghent University Hospital; Ghent Belgium

2. Department of Genetics; Hospital de Santa Maria de Lisboa; Lisbon Portugal

3. Department of Clinical Genetics; Southern General Hospital; Glasgow United Kingdom

4. Department of Dermatopathology; Liège University Hospital; Liège Belgium

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.2473/fullpdf

Reference42 articles.