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The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.
Vascular type of Ehlers-Danlos syndrome.
Watanabe A, Shimada T. Watanabe A, et al. J Nippon Med Sch. 2008 Oct;75(5):254-61. doi: 10.1272/jnms.75.254. J Nippon Med Sch. 2008. PMID: 19023163 Free article. Review.
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