| http://purl.uniprot.org/citations/8325637 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8325637 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8325637 | http://www.w3.org/2000/01/rdf-schema#comment | "The molecular basis of an inherited defect of ferrochelatase in mouse (Fechm1Pas/Fechm1Pas, described by Tutois et al., 1991, J. Clin. Invest. 88:1730-1736) was investigated. cDNA clones encoding ferrochelatase, isolated by amplification of the mRNA from the liver of a mutant mouse using the polymerase chain reaction, were sequenced by the dideoxynucleotide chain-termination method. All the clones carried a T to A transversion at nucleotide 293, leading to a methionine to lysine substitution at position 98 in the protein (mutation M98K). Hybridization with allele-specific oligonucleotides (ASOs) confirmed the mutation at the cDNA and genomic levels. Finally, expression of the mutant ferrochelatase protein in E. coli demonstrated a marked deficiency in activity in agreement with the activity of the deficient enzyme in vivo. This Fechm1Pas/Fechm1Pas mutant mouse represents a useful model for studying the pathophysiological feature of the human disease and the first accessible model for gene therapy in the field of porphyrias."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1993.1242"xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1993.1242"xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Grandchamp B."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Grandchamp B."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Guenet J.-L."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Guenet J.-L."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Deybach J.-C."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Deybach J.-C."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Montagutelli X."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Montagutelli X."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Lamoril J."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Lamoril J."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Nordmann Y."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Nordmann Y."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "de Verneuil H."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "de Verneuil H."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Boulechfar S."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Boulechfar S."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Dailey H."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/author | "Dailey H."xsd:string |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8325637 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |