Article
Alteration of genetic recombination and double-strand break repair in human cells by progerin expression.
DNA repair - 1 Dec 2020
Komari Celina J, Guttman Anne O, Carr Shelby R, Trachtenberg Taylor L, Orloff Elise A, Haas Ashley V, Patrick Andrew R, Chowdhary Sona, Waldman Barbara C, Waldman Alan S
Abstract excerpt
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare autosomal, dominant genetic condition characterized by many features of accelerated aging. On average, children with HGPS live to about fourteen years of age. The syndrome is commonly caused by a point mutation in the LMNA gene which normally codes for lamin A and its splice variant lamin C, components of the nuclear lamina. The LMNA mutation alters splicing,...
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