Results 141 to 148 of about 601 (148)

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics

Journal of Internal Medicine, 2011
Staffan Wahlin
exaly  

Coexistence of two mutations on a single allele of the ferrochelatase gene (FECH) in erythropoietic protoporphyria (EPP)

2006
E. Di Pierro, V. Brancaleoni, V. Befana, M.D. Cappellini   +3 more
openaire   +1 more source

Faculty Opinions recommendation of Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2019
openaire   +1 more source

A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria

Journal of Dermatological Science, 2007
exaly  

Erythropoietic protoporphyria with eye complications

Journal of Dermatology, 2007
exaly  

A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria

British Journal of Haematology, 1996
exaly  

C-terminal deletion in the ALAS2 gene causes X-linked erythropoietic protoporphyria (EPP) despite of wild type fech gene

2009
V. Brancaleoni, E. Di Pierro, D. Tavazzi, M.D. Cappellini   +3 more
openaire   +1 more source

A single base-pair mutation in the SP1 binding site of the ferrochelatase (FECH) promoter may play a role in erythropoietic protoporphyria (EPP)

2002
Cappellini MD, Di Pierro E, Mazzucchelli R, Moriondo V, Mologni D, Bonara P, Riva A   +6 more
openaire   +1 more source