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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Bibliografske podrobnosti
izdano v:Genet Med
Main Authors: 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
Jezik:Inglês
Izdano: 2020
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Article
Online dostop: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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