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Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.
Atherosclerosis in perlecan heterozygous mice.
Vikramadithyan RK, Kako Y, Chen G, Hu Y, Arikawa-Hirasawa E, Yamada Y, Goldberg IJ. Vikramadithyan RK, et al. J Lipid Res. 2004 Oct;45(10):1806-12. doi: 10.1194/jlr.M400019-JLR200. Epub 2004 Jul 16. J Lipid Res. 2004. PMID: 15258195 Free article.
74 results