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Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features

Jean-Marie Naeyaert, Lieve Nuytinck UGent, Sylvia De Bie, Hilde Beele UGent, André Kint and Anne De Paepe UGent (1995) JOURNAL OF INVESTIGATIVE DERMATOLOGY. 104(5). p.803-805
abstract
Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled keratosis lichenoides chronica. Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1. Two-point linkage analysis with two intragenic polymorphisms (PvuII, AluI) in COL7A1. was performed. Strong genetic linkage between the disease in this family and COL7A1 was demonstrated by a led score of 4.45 (theta = 0) for the AluI polymorphism. The observed intrafamilial variability of clinical phenotypes contradicts the presently proposed classification of dominantly inherited dystrophic epidermolysis bullosa.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
ANCHORING FIBRILS, FAMILIES
journal title
JOURNAL OF INVESTIGATIVE DERMATOLOGY
J. Invest. Dermatol.
volume
104
issue
5
pages
803 - 805
Web of Science type
Article
ISSN
0022-202X
DOI
10.1111/1523-1747.ep12606999
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
193583
handle
http://hdl.handle.net/1854/LU-193583
date created
2004-01-14 13:42:00
date last changed
2016-12-19 15:38:11
@article{193583,
  abstract     = {Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled keratosis lichenoides chronica. Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1. Two-point linkage analysis with two intragenic polymorphisms (PvuII, AluI) in COL7A1. was performed. Strong genetic linkage between the disease in this family and COL7A1 was demonstrated by a led score of 4.45 (theta = 0) for the AluI polymorphism. The observed intrafamilial variability of clinical phenotypes contradicts the presently proposed classification of dominantly inherited dystrophic epidermolysis bullosa.},
  author       = {Naeyaert, Jean-Marie and Nuytinck, Lieve and De Bie, Sylvia and Beele, Hilde and Kint, Andr{\'e} and De Paepe, Anne},
  issn         = {0022-202X},
  journal      = {JOURNAL OF INVESTIGATIVE DERMATOLOGY},
  keyword      = {ANCHORING FIBRILS,FAMILIES},
  language     = {eng},
  number       = {5},
  pages        = {803--805},
  title        = {Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features},
  url          = {http://dx.doi.org/10.1111/1523-1747.ep12606999},
  volume       = {104},
  year         = {1995},
}

Chicago
Naeyaert, Jean-Marie, Lieve Nuytinck, Sylvia De Bie, Hilde Beele, André Kint, and Anne De Paepe. 1995. “Genetic-linkage Between the Collagen type-VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features.” Journal of Investigative Dermatology 104 (5): 803–805.
APA
Naeyaert, J.-M., Nuytinck, L., De Bie, S., Beele, H., Kint, A., & De Paepe, A. (1995). Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 104(5), 803–805.
Vancouver
1.
Naeyaert J-M, Nuytinck L, De Bie S, Beele H, Kint A, De Paepe A. Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 1995;104(5):803–5.
MLA
Naeyaert, Jean-Marie, Lieve Nuytinck, Sylvia De Bie, et al. “Genetic-linkage Between the Collagen type-VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features.” JOURNAL OF INVESTIGATIVE DERMATOLOGY 104.5 (1995): 803–805. Print.