FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1993717265> ?p ?o ?g. }

• W1993717265 endingPage "664" @default.
• W1993717265 startingPage "661" @default.
• W1993717265 abstract "An inherited deficiency of porphobilinogen deaminase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in humans is responsible for the autosomal dominant disease acute intermittent porphyria. Different classes of mutations have been described at the protein level suggesting that this is a heterogeneous disease. It was previously demonstrated that porphobilinogen deaminase is encoded by two distinct mRNA species expressed in a tissue-specific manner. Analysis of the genomic sequences indicated that these two mRNAs are transcribed from two promoters and only differ in their first exon. The first mutation identified in the human porphobilinogen deaminase gene is a single-base substitution (G----A) in the canonical 5' splice donor site of intron 1. This mutation leads to a particular subtype of acute intermittent porphyria characterized by the restriction of the enzymatic defect to nonerythropoietic tissues. Hybridization analysis using oligonucleotide probes after in vitro amplification of genomic DNA offers another possibility of detecting asymptomatic carriers of the mutation in affected families." @default.
• W1993717265 created "2016-06-24" @default.
• W1993717265 creator A5000106230 @default.
• W1993717265 creator A5027527989 @default.
• W1993717265 creator A5033499830 @default.
• W1993717265 creator A5058205283 @default.
• W1993717265 creator A5072937166 @default.
• W1993717265 creator A5074164430 @default.
• W1993717265 creator A5082034139 @default.
• W1993717265 creator A5090325782 @default.
• W1993717265 creator A5074577273 @default.
• W1993717265 date "1989-01-01" @default.
• W1993717265 modified "2023-10-13" @default.
• W1993717265 title "Tissue-specific splicing mutation in acute intermittent porphyria." @default.
• W1993717265 cites W1496690585 @default.
• W1993717265 cites W1527602041 @default.
• W1993717265 cites W1878915947 @default.
• W1993717265 cites W1979555459 @default.
• W1993717265 cites W2000144358 @default.
• W1993717265 cites W2014669590 @default.
• W1993717265 cites W2027770583 @default.
• W1993717265 cites W2032118018 @default.
• W1993717265 cites W2052471136 @default.
• W1993717265 cites W2058682343 @default.
• W1993717265 cites W2065723356 @default.
• W1993717265 cites W2085832120 @default.
• W1993717265 cites W2086890993 @default.
• W1993717265 cites W2138270253 @default.
• W1993717265 cites W2159162382 @default.
• W1993717265 cites W2327295182 @default.
• W1993717265 cites W2428836696 @default.
• W1993717265 doi "https://doi.org/10.1073/pnas.86.2.661" @default.
• W1993717265 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/286533" @default.
• W1993717265 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2563167" @default.
• W1993717265 hasPublicationYear "1989" @default.
• W1993717265 type Work @default.
• W1993717265 sameAs 1993717265 @default.
• W1993717265 citedByCount "110" @default.
• W1993717265 countsByYear W19937172652012 @default.
• W1993717265 countsByYear W19937172652013 @default.
• W1993717265 countsByYear W19937172652015 @default.
• W1993717265 countsByYear W19937172652016 @default.
• W1993717265 countsByYear W19937172652021 @default.
• W1993717265 crossrefType "journal-article" @default.
• W1993717265 hasAuthorship W1993717265A5000106230 @default.
• W1993717265 hasAuthorship W1993717265A5027527989 @default.
• W1993717265 hasAuthorship W1993717265A5033499830 @default.
• W1993717265 hasAuthorship W1993717265A5058205283 @default.
• W1993717265 hasAuthorship W1993717265A5072937166 @default.
• W1993717265 hasAuthorship W1993717265A5074164430 @default.
• W1993717265 hasAuthorship W1993717265A5074577273 @default.
• W1993717265 hasAuthorship W1993717265A5082034139 @default.
• W1993717265 hasAuthorship W1993717265A5090325782 @default.
• W1993717265 hasBestOaLocation W19937172652 @default.
• W1993717265 hasConcept C104317684 @default.
• W1993717265 hasConcept C134018914 @default.
• W1993717265 hasConcept C153911025 @default.
• W1993717265 hasConcept C17757408 @default.
• W1993717265 hasConcept C2776682811 @default.
• W1993717265 hasConcept C2777940757 @default.
• W1993717265 hasConcept C2778503633 @default.
• W1993717265 hasConcept C2779028619 @default.
• W1993717265 hasConcept C29906990 @default.
• W1993717265 hasConcept C36823959 @default.
• W1993717265 hasConcept C501734568 @default.
• W1993717265 hasConcept C54355233 @default.
• W1993717265 hasConcept C86803240 @default.
• W1993717265 hasConcept C94671646 @default.
• W1993717265 hasConceptScore W1993717265C104317684 @default.
• W1993717265 hasConceptScore W1993717265C134018914 @default.
• W1993717265 hasConceptScore W1993717265C153911025 @default.
• W1993717265 hasConceptScore W1993717265C17757408 @default.
• W1993717265 hasConceptScore W1993717265C2776682811 @default.
• W1993717265 hasConceptScore W1993717265C2777940757 @default.
• W1993717265 hasConceptScore W1993717265C2778503633 @default.
• W1993717265 hasConceptScore W1993717265C2779028619 @default.
• W1993717265 hasConceptScore W1993717265C29906990 @default.
• W1993717265 hasConceptScore W1993717265C36823959 @default.
• W1993717265 hasConceptScore W1993717265C501734568 @default.
• W1993717265 hasConceptScore W1993717265C54355233 @default.
• W1993717265 hasConceptScore W1993717265C86803240 @default.
• W1993717265 hasConceptScore W1993717265C94671646 @default.
• W1993717265 hasIssue "2" @default.
• W1993717265 hasLocation W19937172651 @default.
• W1993717265 hasLocation W19937172652 @default.
• W1993717265 hasLocation W19937172653 @default.
• W1993717265 hasLocation W19937172654 @default.
• W1993717265 hasOpenAccess W1993717265 @default.
• W1993717265 hasPrimaryLocation W19937172651 @default.
• W1993717265 hasRelatedWork W1489285671 @default.
• W1993717265 hasRelatedWork W1999455443 @default.
• W1993717265 hasRelatedWork W2018948738 @default.
• W1993717265 hasRelatedWork W2023215935 @default.
• W1993717265 hasRelatedWork W2093028222 @default.
• W1993717265 hasRelatedWork W2411443641 @default.
• W1993717265 hasRelatedWork W2420142133 @default.
• W1993717265 hasRelatedWork W4221131920 @default.
• W1993717265 hasRelatedWork W4386268010 @default.

• next