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  • Molecular assay reagents intended to identify mutations in the transforming growth factor, beta 1 (TGFB1) gene, located at chromosome 19q13.1-q13.2, which encodes for a multifunctional protein that controls proliferative differentiation and other functions in many types of cell. This inherited genetic mutation is associated with progressive diaphyseal dysplasia type 1 (Camurati-Engelmann disease).
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