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Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure

(2014) HUMAN MUTATION. 35(11). p.1330-1341
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Keywords
C-propeptide, type I procollagen, genotype-phenotype, unfolded protein response, COL1A1, COL1A2, CARBOXYL-TERMINAL PROPEPTIDE, IMPERFECTA TYPE-I, EHLERS-DANLOS-SYNDROME, COLLAGEN MUTATION DATABASE, OSTEOGENESIS-IMPERFECTA, PRO-ALPHA-1(I) CHAIN, MOLECULAR RECOGNITION, FRAMESHIFT MUTATION, NULL-ALLELE, COL1A1 GENE, osteogenesis imperfecta

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Citation

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Chicago
Symoens, Sofie, David JS Hulmes, Jean-Marie Bourhis, Paul Coucke, Anne De Paepe, and Fransiska Malfait. 2014. “Type I Procollagen C-propeptide Defects: Study of Genotype-phenotype Correlation and Predictive Role of Crystal Structure.” Human Mutation 35 (11): 1330–1341.
APA
Symoens, Sofie, Hulmes, D. J., Bourhis, J.-M., Coucke, P., De Paepe, A., & Malfait, F. (2014). Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure. HUMAN MUTATION, 35(11), 1330–1341.
Vancouver
1.
Symoens S, Hulmes DJ, Bourhis J-M, Coucke P, De Paepe A, Malfait F. Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure. HUMAN MUTATION. 2014;35(11):1330–41.
MLA
Symoens, Sofie, David JS Hulmes, Jean-Marie Bourhis, et al. “Type I Procollagen C-propeptide Defects: Study of Genotype-phenotype Correlation and Predictive Role of Crystal Structure.” HUMAN MUTATION 35.11 (2014): 1330–1341. Print.
@article{5827237,
  author       = {Symoens, Sofie and Hulmes, David JS and Bourhis, Jean-Marie and Coucke, Paul and De Paepe, Anne and Malfait, Fransiska},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {11},
  pages        = {1330--1341},
  title        = {Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure},
  url          = {http://dx.doi.org/10.1002/humu.22677},
  volume       = {35},
  year         = {2014},
}

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