Open AccessA Novel FECH Mutation Causes Erythropoietic Protoporphyria with Severe Liver Dysfunction
Author(s) -
Fang Xu,
Xiaomei Wang,
Xiumei Chi,
Xiuting He,
Yue Qi,
Huijuan Peng,
Junqi Niu,
Yong Cai,
Pujun Gao
Publication year - 2018
Publication title -
hepatitis monthly
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.264
H-Index - 37
eISSN - 1735-3408
pISSN - 1735-143X
DOI - 10.5812/hepatmon.80767
Subject(s) - erythropoietic protoporphyria , genetics , proband , ferrochelatase , nonsense mutation , allele , medicine , penetrance , mutation , compound heterozygosity , gene , biology , missense mutation , protoporphyrin , heme , biochemistry , porphyrin , phenotype , enzyme