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Items: 4

1.
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
Debbie S. Kuo, Cassandre Labelle-Dumais, Douglas B. Gould
Hum Mol Genet. 2012 Oct 15; 21(R1): R97–R110. Published online 2012 Aug 21. doi: 10.1093/hmg/dds346
PMCID:
PMC3459649
AbstractArticlePDF–295K
2.
The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure.
E Pöschl, R Pollner, K Kühn
EMBO J. 1988 Sep; 7(9): 2687–2695. doi: 10.1002/j.1460-2075.1988.tb03122.x
PMCID:
PMC457057
SummaryPage BrowsePDF–1.7M
3.
Restricted homology between human alpha 1 type IV and other procollagen chains.
J M Brinker, L J Gudas, H R Loidl, S Y Wang, J Rosenbloom, N A Kefalides, J C Myers
Proc Natl Acad Sci U S A. 1985 Jun; 82(11): 3649–3653. doi: 10.1073/pnas.82.11.3649
PMCID:
PMC397843
SummaryPage BrowsePDF–1.2M
4.
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Melodie Aubart, Steven Gazal, Pauline Arnaud, Louise Benarroch, Marie-Sylvie Gross, Julien Buratti, Anne Boland, Vincent Meyer, Habib Zouali, Nadine Hanna, Olivier Milleron, Chantal Stheneur, Thomas Bourgeron, Isabelle Desguerre, Marie-Paule Jacob, Laurent Gouya, Emmanuelle Génin, Jean-François Deleuze, Guillaume Jondeau, Catherine Boileau
Eur J Hum Genet. 2018 Dec; 26(12): 1759–1772. Published online 2018 Aug 7. doi: 10.1038/s41431-018-0164-9
PMCID:
PMC6244213
AbstractArticlePDF–2.4M

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