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Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven

Timofei Vizerov1, Nina Demina1, Rodion Ponomarev2

  • 1Research Centre for Medical Genetics, 1 Moskvorechye Street, Moscow 115478, Russian Federation.

Molecular Genetics and Metabolism Reports
|May 20, 2026
PubMed

Keywords:
ALAD porphyriaAcute hepatic porphyriaSomatic mosaicismWhole-genome sequencingδ-Aminolevulinic acid dehydratase deficiency

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