FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068035544> ?p ?o ?g. }

• W2068035544 endingPage "198" @default.
• W2068035544 startingPage "191" @default.
• W2068035544 abstract "The inheritance of a deficient delta-aminolevulinic acid dehydrase (ALA-D; synonym: porphobilinogen synthase; EC 4.2.1.24) was studied in blood samples of two families over three generations. The propositus in each family was a young male acute hepatic porphyria patient with an almost complete ALA-D deficiency in the homozygous state (ALA-D activity less than 2% of controls). Heterozygotes are clinically non-affected (mean ALA-D 36% of controls). The mode of transmission could be traced by enzyme activity and electrophoretic polymorphism studies. Heterozygotes are detected by the demonstration of enzyme activity in the gel. The notation D was used for the gene expressing the defective enzyme. The phenotype D-1 was observed in six, the phenotype D-2 in three of all heterozygotes studied. These results are compatible with a single normal allele in heterozygotes responsible for enzyme activity. Quantitative assays and the segregation pattern in both families suggest a 3-allele-system for the inheritance of ALA-D deficiency." @default.
• W2068035544 created "2016-06-24" @default.
• W2068035544 creator A5027214948 @default.
• W2068035544 creator A5062243111 @default.
• W2068035544 creator A5084774677 @default.
• W2068035544 date "2008-04-23" @default.
• W2068035544 modified "2023-09-25" @default.
• W2068035544 title "δ-aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency" @default.
• W2068035544 cites W1547928236 @default.
• W2068035544 cites W1574773153 @default.
• W2068035544 cites W161706433 @default.
• W2068035544 cites W1964800052 @default.
• W2068035544 cites W1975920835 @default.
• W2068035544 cites W1983588294 @default.
• W2068035544 cites W1995681120 @default.
• W2068035544 cites W1996832388 @default.
• W2068035544 cites W2012495762 @default.
• W2068035544 cites W2013678157 @default.
• W2068035544 cites W2036923291 @default.
• W2068035544 cites W2041000301 @default.
• W2068035544 cites W2057593368 @default.
• W2068035544 cites W2063627221 @default.
• W2068035544 cites W2068876484 @default.
• W2068035544 cites W2082851019 @default.
• W2068035544 cites W2083076983 @default.
• W2068035544 cites W2086932144 @default.
• W2068035544 cites W2087856535 @default.
• W2068035544 cites W2090908217 @default.
• W2068035544 cites W2094064316 @default.
• W2068035544 cites W2095195663 @default.
• W2068035544 cites W2106264845 @default.
• W2068035544 cites W2119311469 @default.
• W2068035544 cites W2150491936 @default.
• W2068035544 cites W2158255115 @default.
• W2068035544 cites W2421158760 @default.
• W2068035544 cites W2434771737 @default.
• W2068035544 cites W289822319 @default.
• W2068035544 cites W4238742981 @default.
• W2068035544 cites W73019834 @default.
• W2068035544 doi "https://doi.org/10.1111/j.1399-0004.1986.tb00594.x" @default.
• W2068035544 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3780034" @default.
• W2068035544 hasPublicationYear "2008" @default.
• W2068035544 type Work @default.
• W2068035544 sameAs 2068035544 @default.
• W2068035544 citedByCount "20" @default.
• W2068035544 countsByYear W20680355442013 @default.
• W2068035544 countsByYear W20680355442020 @default.
• W2068035544 crossrefType "journal-article" @default.
• W2068035544 hasAuthorship W2068035544A5027214948 @default.
• W2068035544 hasAuthorship W2068035544A5062243111 @default.
• W2068035544 hasAuthorship W2068035544A5084774677 @default.
• W2068035544 hasConcept C104317684 @default.
• W2068035544 hasConcept C119795356 @default.
• W2068035544 hasConcept C127716648 @default.
• W2068035544 hasConcept C134018914 @default.
• W2068035544 hasConcept C153471976 @default.
• W2068035544 hasConcept C153911025 @default.
• W2068035544 hasConcept C180754005 @default.
• W2068035544 hasConcept C181199279 @default.
• W2068035544 hasConcept C2776217839 @default.
• W2068035544 hasConcept C2776682811 @default.
• W2068035544 hasConcept C2777940757 @default.
• W2068035544 hasConcept C2778503633 @default.
• W2068035544 hasConcept C2781374117 @default.
• W2068035544 hasConcept C28212737 @default.
• W2068035544 hasConcept C44538786 @default.
• W2068035544 hasConcept C54355233 @default.
• W2068035544 hasConcept C55493867 @default.
• W2068035544 hasConcept C86803240 @default.
• W2068035544 hasConceptScore W2068035544C104317684 @default.
• W2068035544 hasConceptScore W2068035544C119795356 @default.
• W2068035544 hasConceptScore W2068035544C127716648 @default.
• W2068035544 hasConceptScore W2068035544C134018914 @default.
• W2068035544 hasConceptScore W2068035544C153471976 @default.
• W2068035544 hasConceptScore W2068035544C153911025 @default.
• W2068035544 hasConceptScore W2068035544C180754005 @default.
• W2068035544 hasConceptScore W2068035544C181199279 @default.
• W2068035544 hasConceptScore W2068035544C2776217839 @default.
• W2068035544 hasConceptScore W2068035544C2776682811 @default.
• W2068035544 hasConceptScore W2068035544C2777940757 @default.
• W2068035544 hasConceptScore W2068035544C2778503633 @default.
• W2068035544 hasConceptScore W2068035544C2781374117 @default.
• W2068035544 hasConceptScore W2068035544C28212737 @default.
• W2068035544 hasConceptScore W2068035544C44538786 @default.
• W2068035544 hasConceptScore W2068035544C54355233 @default.
• W2068035544 hasConceptScore W2068035544C55493867 @default.
• W2068035544 hasConceptScore W2068035544C86803240 @default.
• W2068035544 hasIssue "3" @default.
• W2068035544 hasLocation W20680355441 @default.
• W2068035544 hasLocation W20680355442 @default.
• W2068035544 hasOpenAccess W2068035544 @default.
• W2068035544 hasPrimaryLocation W20680355441 @default.
• W2068035544 hasRelatedWork W1645792073 @default.
• W2068035544 hasRelatedWork W2019089536 @default.
• W2068035544 hasRelatedWork W2052141035 @default.
• W2068035544 hasRelatedWork W2068035544 @default.
• W2068035544 hasRelatedWork W2088726818 @default.
• W2068035544 hasRelatedWork W2089770986 @default.

• next