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Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
Am J Hum Genet. 2003 Mar;72(3):763-71. doi: 10.1086/368277. Epub 2003 Feb 10.
Am J Hum Genet. 2003.
PMID: 12579474
Free PMC article.
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.
Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H, Brunkow ME.
Staehling-Hampton K, et al.
Am J Med Genet. 2002 Jun 15;110(2):144-52. doi: 10.1002/ajmg.10401.
Am J Med Genet. 2002.
PMID: 12116252
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