Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria
Work
Year: 2014
Type: article
Abstract: Congenital erythropoietic porphyria (CEP) results from a deficiency in uroporphyrinogen III synthase enzyme (UROIIIS) activity that ultimately stems from deleterious mutations in the uroS gene. C73 is... more
Source: Human Molecular Genetics
Institutions CIC bioGUNE, Ikerbasque
Cites: 30
Cited by: 21
Related to: 10
FWCI: 0.523
Citation percentile (by year/subfield): 74.46
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze