Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo. [electronic resource]
- The American journal of pathology Nov 2005
- 1341-8 p. digital
Publication Type: Journal Article
0002-9440
10.1016/S0002-9440(10)61221-7 doi
Adult Amino Acid Substitution Bone Resorption--physiopathology Carrier Proteins--pharmacology Cell Differentiation Female Genes, Dominant Humans LDL-Receptor Related Proteins--genetics Lipopolysaccharide Receptors--analysis Low Density Lipoprotein Receptor-Related Protein-5 Macrophage Colony-Stimulating Factor--pharmacology Male Membrane Glycoproteins--pharmacology Middle Aged Monocytes Mutation Osteoclasts--physiology Osteopetrosis--genetics RANK Ligand Receptor Activator of Nuclear Factor-kappa B