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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
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
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
journal title
HUMAN MUTATION
Hum. Mutat.
volume
33
issue
10
pages
1485 - 1493
Web of Science type
Article
Web of Science id
000308714500014
JCR category
GENETICS & HEREDITY
JCR impact factor
5.213 (2012)
JCR rank
22/161 (2012)
JCR quartile
1 (2012)
ISSN
1059-7794
DOI
10.1002/humu.22137
language
English
UGent publication?
yes
classification
A1
additional info
The first two authors have equally contributed to this work
copyright statement
I have transferred the copyright for this publication to the publisher
id
3050233
handle
http://hdl.handle.net/1854/LU-3050233
date created
2012-11-09 13:21:28
date last changed
2012-11-12 10:24:10
@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},
  keyword      = {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},
  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},
}

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.