Associated Papers
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.
Wahlin S et al.
Journal of Internal Medicine, 2011
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
Wiman A et al.
Journal of Human Genetics, 2003
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