Article ID Journal Published Year Pages File Type
10834955 Molecular Genetics and Metabolism 2005 4 Pages PDF
Abstract
We report a biochemical and genetic characterization of four cases of hereditary coproporphyria (HCP) in Spain. All patients showed a typical HCP porphyrin excretion pattern with a high concentration of coproporphyrins in feces and inverted I:III isomer ratio. The porphyrin precursors in urine were found elevated in two patients who showed acute symptoms. The analysis of the CPO gene showed that three cases harboured novel mutations: V135A (404T > C; exon 1); L214R (641T > G; exon 2); and P249R (746C > G; exon 3) and in the fourth, a previously described R426X mutation in exon 6.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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