Matches in SemOpenAlex for { <https://semopenalex.org/work/W2397820419> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W2397820419 endingPage "66" @default.
- W2397820419 startingPage "59" @default.
- W2397820419 abstract "Hereditary coproporphyria (HCP) is an acute hepatic porphyria, and is an autosomal dominant disorder but with a variable degree of clinical expression. Molecular cloning, sequencing and expression of the defective gene for coproporphyrinogen oxidase (CPO) in a patient with HCP were carried out. Enzyme assays revealed that CPO activity in EBV-transformed lymphoblastoid cells from the proband and one of her sisters was approximately 50% of normal. Nucleotide sequence analysis of CPO cDNAs isolated from the proband's cells demonstrated 3 base substitutions which accompanied 3 different amino acid substitutions. An A514-->C transition causing an Asn172-->His substitution occurred in one allele, while two other transitions, G265-->A and G580-->A, caused Gly89-->Ser and Val194-->Ile substitutions, respectively, in the other allele. The A514-->C and the G580-->A transitions were shown to be genetic polymorphisms. Transfection of CPO cDNA into E. coli demonstrated that cDNA with the G265-->A transition produced a protein with less than 5% of normal enzyme activity. These findings indicate that the G265-->A transition, involving the highly conserved glycine residue at the 89th position, is responsible for the CPO defect in the patient and accounts for the partial deficiency of CPO activity in this pedigree. This mutation is different from three other mutations reported in patients with HCP. Molecular defects in the porphyrias including HCP are highly heterogeneous." @default.
- W2397820419 created "2016-06-24" @default.
- W2397820419 creator A5015494272 @default.
- W2397820419 creator A5025488446 @default.
- W2397820419 creator A5037252505 @default.
- W2397820419 creator A5061487345 @default.
- W2397820419 creator A5065975813 @default.
- W2397820419 creator A5067423690 @default.
- W2397820419 creator A5074346471 @default.
- W2397820419 creator A5077203186 @default.
- W2397820419 creator A5085125186 @default.
- W2397820419 creator A5091230094 @default.
- W2397820419 date "1997-02-01" @default.
- W2397820419 modified "2023-09-23" @default.
- W2397820419 title "Molecular defects of the coproporphyrinogen oxidase gene in hereditary coproporphyria." @default.
- W2397820419 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9074789" @default.
- W2397820419 hasPublicationYear "1997" @default.
- W2397820419 type Work @default.
- W2397820419 sameAs 2397820419 @default.
- W2397820419 citedByCount "3" @default.
- W2397820419 countsByYear W23978204192016 @default.
- W2397820419 crossrefType "journal-article" @default.
- W2397820419 hasAuthorship W2397820419A5015494272 @default.
- W2397820419 hasAuthorship W2397820419A5025488446 @default.
- W2397820419 hasAuthorship W2397820419A5037252505 @default.
- W2397820419 hasAuthorship W2397820419A5061487345 @default.
- W2397820419 hasAuthorship W2397820419A5065975813 @default.
- W2397820419 hasAuthorship W2397820419A5067423690 @default.
- W2397820419 hasAuthorship W2397820419A5074346471 @default.
- W2397820419 hasAuthorship W2397820419A5077203186 @default.
- W2397820419 hasAuthorship W2397820419A5085125186 @default.
- W2397820419 hasAuthorship W2397820419A5091230094 @default.
- W2397820419 hasConcept C104317684 @default.
- W2397820419 hasConcept C153911025 @default.
- W2397820419 hasConcept C185592680 @default.
- W2397820419 hasConcept C187882448 @default.
- W2397820419 hasConcept C188997412 @default.
- W2397820419 hasConcept C194232998 @default.
- W2397820419 hasConcept C19924922 @default.
- W2397820419 hasConcept C501734568 @default.
- W2397820419 hasConcept C54355233 @default.
- W2397820419 hasConcept C55493867 @default.
- W2397820419 hasConcept C64872895 @default.
- W2397820419 hasConcept C86803240 @default.
- W2397820419 hasConceptScore W2397820419C104317684 @default.
- W2397820419 hasConceptScore W2397820419C153911025 @default.
- W2397820419 hasConceptScore W2397820419C185592680 @default.
- W2397820419 hasConceptScore W2397820419C187882448 @default.
- W2397820419 hasConceptScore W2397820419C188997412 @default.
- W2397820419 hasConceptScore W2397820419C194232998 @default.
- W2397820419 hasConceptScore W2397820419C19924922 @default.
- W2397820419 hasConceptScore W2397820419C501734568 @default.
- W2397820419 hasConceptScore W2397820419C54355233 @default.
- W2397820419 hasConceptScore W2397820419C55493867 @default.
- W2397820419 hasConceptScore W2397820419C64872895 @default.
- W2397820419 hasConceptScore W2397820419C86803240 @default.
- W2397820419 hasIssue "1" @default.
- W2397820419 hasLocation W23978204191 @default.
- W2397820419 hasOpenAccess W2397820419 @default.
- W2397820419 hasPrimaryLocation W23978204191 @default.
- W2397820419 hasRelatedWork W2027132152 @default.
- W2397820419 hasRelatedWork W2135352466 @default.
- W2397820419 hasRelatedWork W2149602930 @default.
- W2397820419 hasRelatedWork W2364131655 @default.
- W2397820419 hasRelatedWork W2376297435 @default.
- W2397820419 hasRelatedWork W2376407880 @default.
- W2397820419 hasRelatedWork W2380833496 @default.
- W2397820419 hasRelatedWork W2416544826 @default.
- W2397820419 hasRelatedWork W2465858916 @default.
- W2397820419 hasRelatedWork W2500570183 @default.
- W2397820419 hasVolume "43" @default.
- W2397820419 isParatext "false" @default.
- W2397820419 isRetracted "false" @default.
- W2397820419 magId "2397820419" @default.
- W2397820419 workType "article" @default.