PathologybioRxivPreprint
PAH DEFICIENT PATHOLOGY IN HUMANIZED c.1066-11G>A PHENYLKETONURIA MICE
A. Martinez-Pizarro, S. Pico, A. Lopez-Marquez…·L. R. Desviat
This paper generates a partially humanized mouse model of PKU with the c.1066-11G>A PAH variant, showing splicing defects, metabolic imbalances, and neurological phenotypes.
DOI 10.1101/2023.11.03.565447