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

Frederic Acke (UGent) , Fransiska Malfait (UGent) , Olivier Vanakker (UGent) , Wouter Steyaert (UGent) , Kim De Leeneer (UGent) , Geert Mortier (UGent) , Ingeborg Dhooge (UGent) , Anne De Paepe (UGent) , Els De Leenheer (UGent) and Paul Coucke (UGent)
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Keywords
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

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Citation

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

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.
@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},
}

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