Associated Papers
Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD.
Honda M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
Hasegawa K et al.
Jimd Reports, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
Lamoril J et al.
American Journal of Human Genetics, 2001
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