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Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L. Paloneva J, et al. Among authors: mandelin j. Am J Hum Genet. 2002 Sep;71(3):656-62. doi: 10.1086/342259. Epub 2002 Jun 21. Am J Hum Genet. 2002. PMID: 12080485 Free PMC article.
Human osteoblasts produce cathepsin K.
Mandelin J, Hukkanen M, Li TF, Korhonen M, Liljeström M, Sillat T, Hanemaaijer R, Salo J, Santavirta S, Konttinen YT. Mandelin J, et al. Bone. 2006 Jun;38(6):769-77. doi: 10.1016/j.bone.2005.10.017. Epub 2005 Dec 5. Bone. 2006. PMID: 16337236
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