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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Frederic Acke, Fransiska Malfait UGent, Olivier Vanakker UGent, Wouter Steyaert UGent, Kim De Leeneer, Geert Mortier, Ingeborg Dhooge UGent, Anne De Paepe UGent, Els De Leenheer UGent and Paul Coucke UGent (2014) MOLECULAR GENETICS AND METABOLISM. 113(3). p.230-235
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
COL11A1, COL11A2, Stickler syndrome, Next-generation sequencing, Exome sequencing, Targeted NGS, EARLY-ONSET OSTEOARTHRITIS, MARSHALL-SYNDROME, COL11A1 GENE, FUNCTION MUTATION, COLLAGEN-XI, STOP CODON, COL2A1, FAMILY, TYPE-2, LOCUS
journal title
MOLECULAR GENETICS AND METABOLISM
Mol. Genet. Metab.
volume
113
issue
3
pages
230 - 235
Web of Science type
Article
Web of Science id
000344844000013
JCR category
GENETICS & HEREDITY
JCR impact factor
2.625 (2014)
JCR rank
78/167 (2014)
JCR quartile
2 (2014)
ISSN
1096-7192
DOI
10.1016/j.ymgme.2014.09.001
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
5750559
handle
http://hdl.handle.net/1854/LU-5750559
date created
2014-11-06 11:27:26
date last changed
2016-12-19 15:42:01
@article{5750559,
  author       = {Acke, Frederic and Malfait, Fransiska and Vanakker, Olivier and Steyaert, Wouter and De Leeneer, Kim and Mortier, Geert and Dhooge, Ingeborg and De Paepe, Anne and De Leenheer, Els and Coucke, Paul},
  issn         = {1096-7192},
  journal      = {MOLECULAR GENETICS AND METABOLISM},
  keyword      = {COL11A1,COL11A2,Stickler syndrome,Next-generation sequencing,Exome sequencing,Targeted NGS,EARLY-ONSET OSTEOARTHRITIS,MARSHALL-SYNDROME,COL11A1 GENE,FUNCTION MUTATION,COLLAGEN-XI,STOP CODON,COL2A1,FAMILY,TYPE-2,LOCUS},
  language     = {eng},
  number       = {3},
  pages        = {230--235},
  title        = {Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing},
  url          = {http://dx.doi.org/10.1016/j.ymgme.2014.09.001},
  volume       = {113},
  year         = {2014},
}

Chicago
Acke, Frederic, Fransiska Malfait, Olivier Vanakker, Wouter Steyaert, KIM DE LEENEER, Geert Mortier, Ingeborg Dhooge, Anne De Paepe, Els De Leenheer, and Paul Coucke. 2014. “Novel Pathogenic COL11A1/COL11A2 Variants in Stickler Syndrome Detected by Targeted NGS and Exome Sequencing.” Molecular Genetics and Metabolism 113 (3): 230–235.
APA
Acke, F., Malfait, F., Vanakker, O., Steyaert, W., DE LEENEER, K., Mortier, G., Dhooge, I., et al. (2014). Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. MOLECULAR GENETICS AND METABOLISM, 113(3), 230–235.
Vancouver
1.
Acke F, Malfait F, Vanakker O, Steyaert W, DE LEENEER K, Mortier G, et al. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. MOLECULAR GENETICS AND METABOLISM. 2014;113(3):230–5.
MLA
Acke, Frederic, Fransiska Malfait, Olivier Vanakker, et al. “Novel Pathogenic COL11A1/COL11A2 Variants in Stickler Syndrome Detected by Targeted NGS and Exome Sequencing.” MOLECULAR GENETICS AND METABOLISM 113.3 (2014): 230–235. Print.