Open AccessTwo Novel Mutations in FECH in a Patient With Erythropoietic Protoporphyria: A Case Report
Author(s) -
Qi Tan,
Y. Heng,
Li-Fang Lan,
Lihua Xie,
Rubing Lin,
Chunlei Wan,
Long-Nian Li
Publication year - 2023
Publication title -
international journal of dermatology and venereology
Language(s) - English
Resource type - Journals
eISSN - 2641-8746
pISSN - 2096-5540
DOI - 10.1097/jd9.0000000000000270
Subject(s) - erythropoietic protoporphyria , ferrochelatase , pathogenesis , mutation , genetics , cholestyramine , compound heterozygosity , proband , medicine , biology , protoporphyrin , enzyme , gene , heme , biochemistry , porphyrin , cholesterol