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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796935/
https://www.ncbi.nlm.nih.gov/pubmed/32873934
http://dx.doi.org/10.1038/s41436-020-00951-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796935/
https://www.ncbi.nlm.nih.gov/pubmed/32873934
http://dx.doi.org/10.1038/s41436-020-00951-8

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