Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria
Amy K. Dickey, Corbin Quick, Sarah Ducamp, Zhaozhong Zhu, Yen‐Chen Anne Feng, Hetanshi Naik, Manisha Balwani, Karl E. Anderson, Xihong Lin, John E. Phillips, Lina Rebeiz, Herbert L. Bonkovsky, Brendan M. McGuire, Bruce Wang, Daniel I. Chasman, Jordan W. Smoller, Mark D. Fleming, David C. Christiani
Topics & Concepts
Erythropoietic protoporphyriaFerrochelataseMedicineBiobankAllele frequencyConfidence intervalInternal medicineGeneticsAlleleBiologyProtoporphyrinGenePorphyrinBiochemistryEnzymeHemePorphyrin Metabolism and DisordersMetabolism and Genetic DisordersBiochemical and Molecular Research