Article
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
Human mutation - 1 May 2007
Donnarumma Michela, Regis Stefano, Tappino Barbara, Rosano Camillo, Assereto Stefania, Corsolini Fabio, Di Rocco Maja, Filocamo Mirella
Abstract excerpt
Molecular characterization of twelve unrelated patients affected by the autosomal recessive osteosclerotic skeletal dysplasia, Pycnodysostosis (cathepsin k deficiency), revealed 11 different genotypes. The mutational profile consisted of 12 different mutations, including nine previously unreported ones, spread throughout the whole gene. One mutation occurred in regions coding predomain, two affected the prodomain...
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