Condition: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
rs1085307078 in
LRP5 gene and
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
PMID 15141052 2004 High-bone-mass disease and LRP5.
PMID 17052975 2006 LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST.
PMID 17295608 2007 Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling.
PMID 11741193 2002 A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.
PMID 12015390 2002 High bone density due to a mutation in LDL-receptor-related protein 5.
PMID 15824861 2005 Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.
PMID 15143163 2004 The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.