Biochemical characterization of Indian hedgehog mutations associated with brachydactyly type A1 and acrocapitofemoral dysplasia

Kelly Patterson
Indian hedgehog (IHH) is involved in regulating bone development, playing a particularly important role in endochondral ossification. Mutations in the IHH gene have been implicated in two human genetic diseases, brachydactyly type A1 and acrocapitofemoral dylplasia. This project involves characterizing these mutations and elucidating the resulting defect in IHH function. Nine mutant IHH constructs were created using site-directed mutagenesis to induce point mutations into full-length IHH cDNA, and HEK293 cell lines stably expressing each of...
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