Hutchinson–Gilford progeria syndrome(English)
- the LMNA c.1824C→T mutation disrupts the normal splicing pattern of LMNA messenger RNA, which results in the production of a shorter lamin A protein; this mutant protein is called progerin in reference to the disease
- LMNA, mRNA
- Congenital disorders, Aging
- https://doi.org…NEJMcibr2100661
- https://doi.org…emed.2021.00041
- https://doi.org…422-024-00977-6