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Figure 1 | BMC Medical Genetics

Figure 1

From: COL1A1and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients

Figure 1

Schematic representation of the COL1A1 and COL1A2 genes showing novel mutations described in patients with Osteogenesis Imperfecta and indicating in which exons they were found. In COL1A1: 1 missense mutation (p. Gly290Glu), 1 nonsense mutation (Arg1026Ter), 1 out-of-frame insertion mutation (p. Leu69GlufsX74) and 2 silent mutations. In COL1A2: 1 missense mutation (p. Gly835Ser) and 2 silent mutations. The distribution of mutations in our patients is shown on Table 1.

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BMC Medical Genetics

ISSN: 1471-2350

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