Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria

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 al...

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Publié dans:Genet Med
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7796935/
https://ncbi.nlm.nih.gov/pubmed/32873934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00951-8
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