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December 7, 2018 News by Patricia Inácio, PhD

Genetic Tests Can Confirm AHP and Identify Family Members at Risk, Study Reports

Genetic testing is vital to confirming the diagnosis of acute hepatic porphyria (AHP) in symptomatic patients, and identifying family members who carry mutations but have no symptoms, a study by Mount Sinai researchers — that found family mutations in 50 percent of the asymptomatic people tested — reports. The study, based on…

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