Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria
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Author / Creator
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. and Christiani, David C.
Publisher
New York: Elsevier Inc
Journal title
Language
English
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Publisher
New York: Elsevier Inc
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Scope and Contents
Contents
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...
Alternative Titles
Full title
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7796935
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7796935
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-00951-8
