Deep Intronic Mutation in CRTAP Results in Unstable Isoforms of the Protein to Induce Type I Collagen Aggregation in a Lethal Type of Osteogenesis Imperfecta Type VII.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE（2023）
关键词
CRTAP,Splice site variant,Unstable protein,Degron,Osteogenesis imperfecta,Autophagy,Senescence
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