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COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

(2009) HUMAN MUTATION. 30(2). p.E395-E403
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Keywords
HAPLOINSUFFICIENCY, SITE, V COLLAGEN, MOLECULAR-BASIS, type V (pro)collagen, signal peptide mutation, classic EDS, SYNDROME TYPE-II, COL5A1, CLEAVAGE, REGION, GENE, FORM, SUBSTITUTION

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Citation

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MLA
Symoens, Sofie, Fransiska Malfait, Marjolijn Renard, et al. “COL5A1 Signal Peptide Mutations Interfere with Protein Secretion and Cause Classic Ehlers-Danlos Syndrome.” HUMAN MUTATION 30.2 (2009): E395–E403. Print.
APA
Symoens, Sofie, Malfait, F., Renard, M., André, J., Hausser, I., Loeys, B., Coucke, P., et al. (2009). COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. HUMAN MUTATION, 30(2), E395–E403.
Chicago author-date
Symoens, Sofie, Fransiska Malfait, Marjolijn Renard, Josette André, Ingrid Hausser, Bart Loeys, Paul Coucke, and Anne De Paepe. 2009. “COL5A1 Signal Peptide Mutations Interfere with Protein Secretion and Cause Classic Ehlers-Danlos Syndrome.” Human Mutation 30 (2): E395–E403.
Chicago author-date (all authors)
Symoens, Sofie, Fransiska Malfait, Marjolijn Renard, Josette André, Ingrid Hausser, Bart Loeys, Paul Coucke, and Anne De Paepe. 2009. “COL5A1 Signal Peptide Mutations Interfere with Protein Secretion and Cause Classic Ehlers-Danlos Syndrome.” Human Mutation 30 (2): E395–E403.
Vancouver
1.
Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, et al. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. HUMAN MUTATION. 2009;30(2):E395–E403.
IEEE
[1]
S. Symoens et al., “COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome,” HUMAN MUTATION, vol. 30, no. 2, pp. E395–E403, 2009.
@article{1141260,
  author       = {Symoens, Sofie and Malfait, Fransiska and Renard, Marjolijn and André, Josette and Hausser, Ingrid  and Loeys, Bart and Coucke, Paul and De Paepe, Anne},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  keywords     = {HAPLOINSUFFICIENCY,SITE,V COLLAGEN,MOLECULAR-BASIS,type V (pro)collagen,signal peptide mutation,classic EDS,SYNDROME TYPE-II,COL5A1,CLEAVAGE,REGION,GENE,FORM,SUBSTITUTION},
  language     = {eng},
  number       = {2},
  pages        = {E395--E403},
  title        = {COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome},
  url          = {http://dx.doi.org/10.1002/humu.20887},
  volume       = {30},
  year         = {2009},
}

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