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A novel arginine‐to‐cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype

2007; Wiley; Volume: 73; Issue: 1 Linguagem: Inglês

10.1111/j.1399-0004.2007.00926.x

1399-0004

Allan M. Lund, Fróði Joensen, Erik Christensen, Morten Dunø, Flemming Skovby, M. Schwartz,

Wnt/β-catenin signaling in development and cancer

Clinical GeneticsVolume 73, Issue 1 p. 97-101 A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype AM Lund, Corresponding Author AM Lund Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkAllan M. LundDepartment of Clinical GeneticsJuliane Marie Centre 40629 Blegdamsvej2100 CopenhagenDenmarkTel.: +45 3545 3887Fax: +45 3545 4072e-mail: [email protected]Search for more papers by this authorF Joensen, F Joensen Department of Paediatrics, National Hospital, Tórshavn, Faroe IslandsSearch for more papers by this authorE Christensen, E Christensen Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkSearch for more papers by this authorM Dunø, M Dunø Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkSearch for more papers by this authorF Skovby, F Skovby Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkSearch for more papers by this authorM Schwartz, M Schwartz Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkSearch for more papers by this author AM Lund, Corresponding Author AM Lund Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkAllan M. LundDepartment of Clinical GeneticsJuliane Marie Centre 40629 Blegdamsvej2100 CopenhagenDenmarkTel.: +45 3545 3887Fax: +45 3545 4072e-mail: [email protected]Search for more papers by this authorF Joensen, F Joensen Department of Paediatrics, National Hospital, Tórshavn, Faroe IslandsSearch for more papers by this authorE Christensen, E Christensen Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkSearch for more papers by this authorM Dunø, M Dunø Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkSearch for more papers by this authorF Skovby, F Skovby Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkSearch for more papers by this authorM Schwartz, M Schwartz Department of Clinical Genetics, Copenhagen University Hospital, Juliane Marie Centre, Blegdamsvej, Copenhagen, DenmarkSearch for more papers by this author First published: 19 November 2007 https://doi.org/10.1111/j.1399-0004.2007.00926.xCitations: 20Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979: 16: 101–116. 2 Glorieux FH, Ward LM, Rauch F et al. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002: 17 (1): 30–38. 3 Ward LM, Rauch F, Travers R et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone 2002: 31 (1): 12–18. 4 Glorieux FH, Rauch F, Plotkin H et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000: 15 (9): 1650–1658. 5 Dalgleish R. The human collagen mutation database 1998. Nucleic Acids Res 1998: 26: 253–255. 6 Dalgleish R. The human type I collagen mutation database. Nucleic Acids Res 1997: 25 (1): 181–187. 7 Morello R, Bertin TK, Chen Y et al. 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Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet 1999: 65: 308–317. 27 Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970: 227: 680–685. Citing Literature Volume73, Issue1January 2008Pages 97-101 ReferencesRelatedInformation