PathologyHuman Molecular GeneticsPeer-reviewed
PAH DEFICIENT PATHOLOGY IN HUMANIZED c.1066-11G>A PHENYLKETONURIA MICE
Ainhoa Martínez‐Pizarro, Sara Picó, Arístides López‐Márquez…·Lourdes 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.
6 citations