Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.
Moshayedi A et al.
Pediatric Dermatology, 2023
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M et al.
Plos One, 2023
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
Frank J et al.
American Journal of Medical Genetics, 1998
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
Frank J et al.
The Journal of Investigative Dermatology, 1998
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
Frank J et al.
The Journal of Investigative Dermatology, 1998
The genetic bases of the porphyrias.
Frank J et al.
Skin Pharmacology and Applied Skin Physiology, 0
Variegate porphyria: past, present and future.
Frank J et al.
Skin Pharmacology and Applied Skin Physiology, 0
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