Advanced search
1 file | 800.09 KB

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

(2013) HUMAN MUTATION. 34(1). p.111-121
Author
Organization
Keywords
FBLN5, LTBP4, Urban-Rifkin-Davis syndrome, fibrillin, cutis laxa, recessive, LATENT-TGF-BETA, MISSENSE MUTATION, EXTRACELLULAR-MATRIX, ELASTIN GENE, ACTIVATION, FIBULIN-5, EMPHYSEMA, TROPOELASTIN, MECHANISMS, DISEASE

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 800.09 KB

Citation

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

Chicago
Callewaert, Bert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, et al. 2013. “Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa.” Human Mutation 34 (1): 111–121.
APA
Callewaert, B., Su, C.-T., Van Damme, T., Vlummens, P., Malfait, F., Vanakker, O., Schulz, B., et al. (2013). Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. HUMAN MUTATION, 34(1), 111–121.
Vancouver
1.
Callewaert B, Su C-T, Van Damme T, Vlummens P, Malfait F, Vanakker O, et al. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. HUMAN MUTATION. 2013;34(1):111–21.
MLA
Callewaert, Bert, Chi-Ting Su, Tim Van Damme, et al. “Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa.” HUMAN MUTATION 34.1 (2013): 111–121. Print.
@article{3145342,
  author       = {Callewaert, Bert and Su, Chi-Ting and Van Damme, Tim and Vlummens, Philip and Malfait, Fransiska and Vanakker, Olivier and Schulz, Bianca and Mac Neal, Meghan and Davis, Elaine C and Lee, Joseph GH and Salhi, Aicha and Unger, Sheila and Heimdal, Ketil and De Almeida, Salome and Kornak, Uwe and Gaspar, Harald and Bresson, Jean-Luc and Prescott, Katrina and Gosendi, Maria E and Mansour, Sahar and Pi{\'e}rard, G{\'e}rald E and Madan-Khetarpal, Suneeta and Sciurba, Frank C and Symoens, Sofie and Coucke, Paul and Van Maldergem, Lionel and Urban, Zsolt and De Paepe, Anne},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {1},
  pages        = {111--121},
  title        = {Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa},
  url          = {http://dx.doi.org/10.1002/humu.22165},
  volume       = {34},
  year         = {2013},
}

Altmetric
View in Altmetric
Web of Science
Times cited: