Author Archives: Lindsey Shapiro PhD

New UROS Mutation Found as Cause of CEP in Elderly Woman

A new mutation in the UROS gene, combined with another previously reported mutation, was identified as the cause of congenital erythropoietic porphyria (CEP) in an elderly Japanese woman, according to a recent case report. Researchers found the new mutation with genetic testing, following a porphyrin test that showed elevated levels in…