Homozygous recessive mutations in either EFEMP2 (encoding fibulin-4) or FBLN5 (encoding fibulin-5), critical genes for elastogenesis, lead to autosomal recessive cutis laxa types 1B and 1A, respectively. Previously, fibulin-4 was shown to bind lysyl...
Authors: Papke CL, Tsunezumi J, Ringuette LJ, Nagaoka H, Terajima M, Yamashiro Y, Urquhart G, Yamauchi M,...
SST Peer Reviewed