Article
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021
Dickey Amy K, Quick Corbin, Ducamp Sarah, Zhu Zhaozhong, Feng Yen-Chen A, Naik Hetanshi, Balwani Manisha, Anderson Karl E, Lin Xihong, Phillips John E, Rebeiz Lina, Bonkovsky Herbert L, McGuire Brendan M, Wang Bruce, Chasman Daniel I, Smoller Jordan W, Fleming Mark D, Christiani David C
Abstract excerpt
PURPOSE: Erythropoietic protoporphyria (EPP), characterized by painful cutaneous photosensitivity, results from pathogenic variants in ferrochelatase (FECH). For 96% of patients, EPP results from coinheriting a rare pathogenic variant in trans of a common hypomorphic variant c.315-48T>C (minor allele frequency 0.05). The estimated prevalence of EPP derived from the number of diagnosed individuals in Europe is...
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