FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1969989752> ?p ?o ?g. }

• W1969989752 endingPage "866" @default.
• W1969989752 startingPage "864" @default.
• W1969989752 abstract "NEUROFIBROMATOSIS type 1 (NF1) is a common autosomal dominant disorder with a high mutation rate and variable expression, characterized by neurofibromas, café-au-lait spots, Lisch nodules of the iris, and less frequent features including bone deformities and learning disabilities1. The recently cloned NF1 gene encodes a transcript of 13 kilobases from a ubiquitously expressed locus on chromosome 17 (refs. 2–4). Most NF1 patients are expected to have unique mutations, but only a few have so far been characterized, restricting genetic and functional information and the design of DNA diagnostics. We report an unusual NF1 mutation, that of a de novo Alu repetitive element insertion into an intron, which results in deletion of the downstream exon during splicing and consequently shifts the reading frame. This previously undescribed mechanism of mutation indicates that Alu retrotrans-position is an ongoing process in the human germ line." @default.
• W1969989752 created "2016-06-24" @default.
• W1969989752 creator A5002683233 @default.
• W1969989752 creator A5041947565 @default.
• W1969989752 creator A5068242165 @default.
• W1969989752 creator A5071503081 @default.
• W1969989752 creator A5078828859 @default.
• W1969989752 creator A5079266462 @default.
• W1969989752 date "1991-10-01" @default.
• W1969989752 modified "2023-10-16" @default.
• W1969989752 title "A de novo Alu insertion results in neurofibromatosis type 1" @default.
• W1969989752 cites W1972187551 @default.
• W1969989752 cites W1978325169 @default.
• W1969989752 cites W1997101537 @default.
• W1969989752 cites W2033040724 @default.
• W1969989752 cites W2045122854 @default.
• W1969989752 cites W2045878278 @default.
• W1969989752 cites W2059366734 @default.
• W1969989752 cites W2068514705 @default.
• W1969989752 cites W2071893342 @default.
• W1969989752 cites W2072695514 @default.
• W1969989752 cites W2079971383 @default.
• W1969989752 cites W2120482876 @default.
• W1969989752 cites W2137123010 @default.
• W1969989752 cites W2138616826 @default.
• W1969989752 cites W2151067616 @default.
• W1969989752 cites W2154449004 @default.
• W1969989752 doi "https://doi.org/10.1038/353864a0" @default.
• W1969989752 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1719426" @default.
• W1969989752 hasPublicationYear "1991" @default.
• W1969989752 type Work @default.
• W1969989752 sameAs 1969989752 @default.
• W1969989752 citedByCount "423" @default.
• W1969989752 countsByYear W19699897522012 @default.
• W1969989752 countsByYear W19699897522013 @default.
• W1969989752 countsByYear W19699897522014 @default.
• W1969989752 countsByYear W19699897522015 @default.
• W1969989752 countsByYear W19699897522016 @default.
• W1969989752 countsByYear W19699897522017 @default.
• W1969989752 countsByYear W19699897522018 @default.
• W1969989752 countsByYear W19699897522019 @default.
• W1969989752 countsByYear W19699897522020 @default.
• W1969989752 countsByYear W19699897522021 @default.
• W1969989752 countsByYear W19699897522022 @default.
• W1969989752 countsByYear W19699897522023 @default.
• W1969989752 crossrefType "journal-article" @default.
• W1969989752 hasAuthorship W1969989752A5002683233 @default.
• W1969989752 hasAuthorship W1969989752A5041947565 @default.
• W1969989752 hasAuthorship W1969989752A5068242165 @default.
• W1969989752 hasAuthorship W1969989752A5071503081 @default.
• W1969989752 hasAuthorship W1969989752A5078828859 @default.
• W1969989752 hasAuthorship W1969989752A5079266462 @default.
• W1969989752 hasBestOaLocation W19699897522 @default.
• W1969989752 hasConcept C104317684 @default.
• W1969989752 hasConcept C125215638 @default.
• W1969989752 hasConcept C141231307 @default.
• W1969989752 hasConcept C153911025 @default.
• W1969989752 hasConcept C197077220 @default.
• W1969989752 hasConcept C2778984943 @default.
• W1969989752 hasConcept C36823959 @default.
• W1969989752 hasConcept C48931128 @default.
• W1969989752 hasConcept C501734568 @default.
• W1969989752 hasConcept C54355233 @default.
• W1969989752 hasConcept C54458228 @default.
• W1969989752 hasConcept C67705224 @default.
• W1969989752 hasConcept C84597430 @default.
• W1969989752 hasConcept C86803240 @default.
• W1969989752 hasConcept C94671646 @default.
• W1969989752 hasConceptScore W1969989752C104317684 @default.
• W1969989752 hasConceptScore W1969989752C125215638 @default.
• W1969989752 hasConceptScore W1969989752C141231307 @default.
• W1969989752 hasConceptScore W1969989752C153911025 @default.
• W1969989752 hasConceptScore W1969989752C197077220 @default.
• W1969989752 hasConceptScore W1969989752C2778984943 @default.
• W1969989752 hasConceptScore W1969989752C36823959 @default.
• W1969989752 hasConceptScore W1969989752C48931128 @default.
• W1969989752 hasConceptScore W1969989752C501734568 @default.
• W1969989752 hasConceptScore W1969989752C54355233 @default.
• W1969989752 hasConceptScore W1969989752C54458228 @default.
• W1969989752 hasConceptScore W1969989752C67705224 @default.
• W1969989752 hasConceptScore W1969989752C84597430 @default.
• W1969989752 hasConceptScore W1969989752C86803240 @default.
• W1969989752 hasConceptScore W1969989752C94671646 @default.
• W1969989752 hasIssue "6347" @default.
• W1969989752 hasLocation W19699897521 @default.
• W1969989752 hasLocation W19699897522 @default.
• W1969989752 hasLocation W19699897523 @default.
• W1969989752 hasOpenAccess W1969989752 @default.
• W1969989752 hasPrimaryLocation W19699897521 @default.
• W1969989752 hasRelatedWork W1968177409 @default.
• W1969989752 hasRelatedWork W2036321075 @default.
• W1969989752 hasRelatedWork W2056412942 @default.
• W1969989752 hasRelatedWork W2083872838 @default.
• W1969989752 hasRelatedWork W2087463521 @default.
• W1969989752 hasRelatedWork W2093797995 @default.
• W1969989752 hasRelatedWork W2162713462 @default.
• W1969989752 hasRelatedWork W2171581216 @default.
• W1969989752 hasRelatedWork W3090446747 @default.

• next