Excited to share our new preprint demonstrating somatic rescue mutations in a genetic liver disease! [1/12]
www.nature.com/articles/s41...
nature.com
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency - Nature Genetics
The expansion of clones with distinct SERPINA1 somatic mutants in the livers of alpha-1 antitrypsin deficiency (A1AT) patients is consistent with convergent evolution. These variants interfere with th...