Associated Papers
PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina.
Wang K et al.
Bmc Biology, 2024
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
Di Iorio V et al.
Genes, 2017
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F et al.
European Journal of Human Genetics : Ejhg, 2017
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