The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
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DOI: 10.1002/mgg3.1996
Abstract: Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mild to perinatal lethal. The phenotype… read more here.
Keywords: glycine tryptophan; col1a1 gene; osteogenesis imperfecta;