Article
Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2002
Garcia-Giralt Natalia, Nogués Xavier, Enjuanes Anna, Puig Jordi, Mellibovsky Leonardo, Bay-Jensen Anne, Carreras Ramon, Balcells Susana, Díez-Pérez Adolfo, Grinberg Daniel
Abstract excerpt
Single-nucleotide polymorphisms (SNPs) in regulatory regions of candidate genes may determine variability in bone mineral density (BMD) because they may be responsible for differences in levels of a gene product in response to external signals. Under this hypothesis, we scanned an 800-base pair (bp) region within the COL1A1 promoter, known to harbor cis elements important for in vivo expression, and we found two...
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