Article
High bone density due to a mutation in LDL-receptor-related protein 5.
The New England journal of medicine - 16 May 2002
Boyden Lynn M, Mao Junhao, Belsky Joseph, Mitzner Lyle, Farhi Anita, Mitnick Mary A, Wu Dianqing, Insogna Karl, Lifton Richard P
Abstract excerpt
BACKGROUND: Osteoporosis is a major public health problem of largely unknown cause. Loss-of-function mutations in the gene for low-density lipoprotein receptor-related protein 5 (LRP5), which acts in the Wnt signaling pathway, have been shown to cause osteoporosis-pseudoglioma. METHODS: We performed genetic and biochemical analyses of a kindred with an autosomal dominant syndrome characterized by high bone...
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