| Literature DB >> 15896662 |
Jordi To-Figueras1, Celia Badenas, Maria T Enríquez, Sonia Segura, Concepción Alvarez, Montserrat Milà, Marius Lecha, Carmen Herrero.
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.Entities:
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Year: 2005 PMID： 15896662 DOI： 10.1016/j.ymgme.2004.12.012
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797