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Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie Symoens (UGent) , Delfien Syx (UGent) , Fransiska Malfait (UGent) , Bert Callewaert (UGent) , Julie De Backer (UGent) , Olivier Vanakker (UGent) , Paul Coucke (UGent) and Anne De Paepe (UGent)
(2012) HUMAN MUTATION. 33(10). p.1485-1493
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Keywords
COL5A1, COL5A2, COL5A1 GENE, EHLERS-DANLOS-SYNDROME, SYNDROME TYPE-II, EDS, type V collagen, classic Ehlers-Danlos Syndrome, GEL-ELECTROPHORESIS, CHAINS, FORM, DNA, HAPLOINSUFFICIENCY, SUBSTITUTION, IMPERFECTA

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Citation

Please use this url to cite or link to this publication:

Chicago
Symoens, Sofie, Delfien Syx, Fransiska Malfait, Bert Callewaert, Julie De Backer, Olivier Vanakker, Paul Coucke, and Anne De Paepe. 2012. “Comprehensive Molecular Analysis Demonstrates Type V Collagen Mutations in over 90% of Patients with Classic EDS and Allows to Refine Diagnostic Criteria.” Human Mutation 33 (10): 1485–1493.
APA
Symoens, Sofie, Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., et al. (2012). Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. HUMAN MUTATION, 33(10), 1485–1493.
Vancouver
1.
Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. HUMAN MUTATION. 2012;33(10):1485–93.
MLA
Symoens, Sofie, Delfien Syx, Fransiska Malfait, et al. “Comprehensive Molecular Analysis Demonstrates Type V Collagen Mutations in over 90% of Patients with Classic EDS and Allows to Refine Diagnostic Criteria.” HUMAN MUTATION 33.10 (2012): 1485–1493. Print.
@article{3050233,
  author       = {Symoens, Sofie and Syx, Delfien and Malfait, Fransiska and Callewaert, Bert and De Backer, Julie and Vanakker, Olivier and Coucke, Paul and De Paepe, Anne},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {10},
  pages        = {1485--1493},
  title        = {Comprehensive molecular analysis demonstrates type V collagen mutations in over 90\% of patients with classic EDS and allows to refine diagnostic criteria},
  url          = {http://dx.doi.org/10.1002/humu.22137},
  volume       = {33},
  year         = {2012},
}

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