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Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.
Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP. Sugitani H, et al. Among authors: kozel ba. J Biol Chem. 2012 Jun 22;287(26):22055-67. doi: 10.1074/jbc.M111.327940. Epub 2012 May 9. J Biol Chem. 2012. PMID: 22573328 Free PMC article.
Skin findings in Williams syndrome.
Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Kozel BA, et al. Am J Med Genet A. 2014 Sep;164A(9):2217-25. doi: 10.1002/ajmg.a.36628. Epub 2014 Jun 11. Am J Med Genet A. 2014. PMID: 24920525 Free PMC article.
77 results