Rare Mutation in UROS Gene Linked to CEP Cases in Nepal

Rare Mutation in UROS Gene Linked to CEP Cases in Nepal

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Rare Mutation in UROS Gene Linked to CEP Cases in Nepal

Three women in Nepal were diagnosed with the rarest type of porphyria, called congenital erythropoietic porphyria or CEP, as described in a recent case report. Genetic analyses revealed the presence of a rare mutation in the UROS gene, one of the two genes underlying CEP, in two of these women. According to the researchers, these are the first reported cases of CEP in the Southeast Asian country. The case report, “Congenital erythropoietic porphyria: A case…

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