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See Latest ArticlesOsteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2
American Journal of Medical Genetics, 02/13/09
Faqeih E et al. - In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 chain. These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding.
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Bone signaling pathways and treatment of osteoporosis
Expert Review of Endocrinology & Metabolism, 11/10/09
Hip Geometry Variation is Associated With Bone Mineralization Pathway Gene Variants: The Framingham Study
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