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Sabina Janciauskiene

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#gene editing Case report Open access Nov 2026

Liver biopsy confirms precise and efficient correction of SERPINA1 after in vivo Base Editing in a Patient with Alpha-1 Antitrypsin Deficiency.

BACKGROUND Alpha-1 antitrypsin deficiency (AATD) caused by the PI*ZZ genotype (Glu342Lys) is characterized by hepatic accumulation of misfolded AAT-Z protein and reduced circulating AAT levels, leading to progressive liver disease and pulmonary emphysema. Gene correction therapy represents a potentially curative approa...

S. Krooss, Tai-Hua Yang, Q. Yuan et al. · 0 citations

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