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

Genetic mutations are involved in Mendelian disorders. Unbuffered intronic mutations in gene variants can generate aberrant splice sites in mutant transcripts, resulting in mutant isoforms of proteins with modulated expression, stability, and function in diseased cells. Here, we identify a deep intr...

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Udgivet i:Biochim Biophys Acta Mol Basis Dis
Main Authors: Udupa, Prajna, Shrikondawar, Akshaykumar Nanaji, Nayak, Shalini S., Shah, Hitesh, Ranjan, Akash, Girisha, Katta M., Bhavani, Gandham SriLakshmi, Ghosh, Debasish Kumar
Format: Artigo
Sprog:Inglês
Udgivet: 2023
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7616376/
https://ncbi.nlm.nih.gov/pubmed/37146916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2023.166741
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