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Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

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alpha 1(V) collagen, classical EDS, fibril formation, missense mutation, SYNDROME TYPE-II, TENASCIN-X DEFICIENCY, V COLLAGEN, FIBRIL MORPHOLOGY, GRAVIS FORM, GENE, MUTATION, FIBRILLOGENESIS, CHAIN, FAMILIES

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Chicago
Giunta, C, Lieve Nuytinck, M Raghunath, I Hausser, Anne De Paepe, and B Steinmann. 2002. “Homozygous Gly530Ser Substitution in COL5A1 Causes Mild Classical Ehlers-Danlos Syndrome.” American Journal of Medical Genetics 109 (4): 284–290.
APA
Giunta, C., Nuytinck, L., Raghunath, M., Hausser, I., De Paepe, A., & Steinmann, B. (2002). Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS, 109(4), 284–290.
Vancouver
1.
Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS. 2002;109(4):284–90.
MLA
Giunta, C, Lieve Nuytinck, M Raghunath, et al. “Homozygous Gly530Ser Substitution in COL5A1 Causes Mild Classical Ehlers-Danlos Syndrome.” AMERICAN JOURNAL OF MEDICAL GENETICS 109.4 (2002): 284–290. Print.
@article{149664,
  author       = {Giunta, C and Nuytinck, Lieve and Raghunath, M and Hausser, I and De Paepe, Anne and Steinmann, B},
  issn         = {0148-7299},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS},
  keyword      = {alpha 1(V) collagen,classical EDS,fibril formation,missense mutation,SYNDROME TYPE-II,TENASCIN-X DEFICIENCY,V COLLAGEN,FIBRIL MORPHOLOGY,GRAVIS FORM,GENE,MUTATION,FIBRILLOGENESIS,CHAIN,FAMILIES},
  language     = {eng},
  number       = {4},
  pages        = {284--290},
  title        = {Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome},
  url          = {http://dx.doi.org/10.1002/ajmg.10373},
  volume       = {109},
  year         = {2002},
}

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