Open AccessHigh Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5
Author(s) -
Lynn M. Boyden,
Junhao Mao,
Joseph L. Belsky,
Lyle Mitzner,
Anita Farhi,
Mary Ann Mitnick,
Dianqing Wu,
Karl Insogna,
Richard P. Lifton
Publication year - 2002
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa013444
Subject(s) - wnt signaling pathway , lrp5 , axin2 , genetics , endocrinology , medicine , mutation , biology , signal transduction , gene
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.
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