Ghent University Academic Bibliography

Advanced

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

C Giunta, Lieve Nuytinck UGent, M Raghunath, I Hausser, Anne De Paepe UGent and B Steinmann (2002) AMERICAN JOURNAL OF MEDICAL GENETICS. 109(4). p.284-290
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
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
journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
Am. J. Med. Genet.
volume
109
issue
4
pages
284 - 290
Web of Science type
Article
Web of Science id
000175272900005
JCR category
GENETICS & HEREDITY
JCR impact factor
2.334 (2002)
JCR rank
53/113 (2002)
JCR quartile
2 (2002)
ISSN
0148-7299
DOI
10.1002/ajmg.10373
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
149664
handle
http://hdl.handle.net/1854/LU-149664
date created
2004-01-14 13:38:00
date last changed
2016-12-19 15:38:18
@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},
}

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.