FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2157742969> ?p ?o ?g. }

• W2157742969 endingPage "1041" @default.
• W2157742969 startingPage "1035" @default.
• W2157742969 abstract "The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000 kbp between the DXS1110 marker and the OTC locus at Xp21.1–p11.4. Employing a novel technique, ‘YAC Representation Hybridization (YRH)’, we have recently identified a small XLRP associated microdeletion in this interval, as well as several putative exons including the 3′ end of a gene that was truncated by the deletion. cDNA library screening and sequencing of a cosmid centromeric to the deletion has now enabled us to identify numerous additional exons and to detect several point mutations in patients with XLRP. The predicted gene product shows homology to RCC1, the guanine-nucleotide-exchange factor (GEF) of the Ras-like GTPase Ran. Our findings suggest that we have cloned the long-sought RP3 gene, and that it may encode the GEF of a retina-specific GTP-binding protein." @default.
• W2157742969 created "2016-06-24" @default.
• W2157742969 creator A5063072445 @default.
• W2157742969 date "1996-07-01" @default.
• W2157742969 modified "2023-10-02" @default.
• W2157742969 title "Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1" @default.
• W2157742969 cites W1566772900 @default.
• W2157742969 cites W1975968351 @default.
• W2157742969 cites W1979027806 @default.
• W2157742969 cites W2000072353 @default.
• W2157742969 cites W2000345813 @default.
• W2157742969 cites W2016489463 @default.
• W2157742969 cites W2022887664 @default.
• W2157742969 cites W2025768188 @default.
• W2157742969 cites W2039169104 @default.
• W2157742969 cites W2051602911 @default.
• W2157742969 cites W2055190426 @default.
• W2157742969 cites W2065969092 @default.
• W2157742969 cites W2075089097 @default.
• W2157742969 cites W2085683774 @default.
• W2157742969 cites W2086774854 @default.
• W2157742969 cites W2096895690 @default.
• W2157742969 cites W2108840105 @default.
• W2157742969 cites W2143228649 @default.
• W2157742969 cites W2153457211 @default.
• W2157742969 cites W2339920377 @default.
• W2157742969 doi "https://doi.org/10.1093/hmg/5.7.1035" @default.
• W2157742969 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8817343" @default.
• W2157742969 hasPublicationYear "1996" @default.
• W2157742969 type Work @default.
• W2157742969 sameAs 2157742969 @default.
• W2157742969 citedByCount "197" @default.
• W2157742969 countsByYear W21577429692012 @default.
• W2157742969 countsByYear W21577429692013 @default.
• W2157742969 countsByYear W21577429692014 @default.
• W2157742969 countsByYear W21577429692015 @default.
• W2157742969 countsByYear W21577429692016 @default.
• W2157742969 countsByYear W21577429692017 @default.
• W2157742969 countsByYear W21577429692018 @default.
• W2157742969 countsByYear W21577429692019 @default.
• W2157742969 countsByYear W21577429692020 @default.
• W2157742969 countsByYear W21577429692021 @default.
• W2157742969 countsByYear W21577429692022 @default.
• W2157742969 countsByYear W21577429692023 @default.
• W2157742969 crossrefType "journal-article" @default.
• W2157742969 hasAuthorship W2157742969A5063072445 @default.
• W2157742969 hasBestOaLocation W21577429691 @default.
• W2157742969 hasConcept C104317684 @default.
• W2157742969 hasConcept C122735190 @default.
• W2157742969 hasConcept C126619667 @default.
• W2157742969 hasConcept C141231307 @default.
• W2157742969 hasConcept C153911025 @default.
• W2157742969 hasConcept C165525559 @default.
• W2157742969 hasConcept C176944494 @default.
• W2157742969 hasConcept C187882448 @default.
• W2157742969 hasConcept C207332259 @default.
• W2157742969 hasConcept C2781114197 @default.
• W2157742969 hasConcept C3020804800 @default.
• W2157742969 hasConcept C30481170 @default.
• W2157742969 hasConcept C35101798 @default.
• W2157742969 hasConcept C36823959 @default.
• W2157742969 hasConcept C501734568 @default.
• W2157742969 hasConcept C54355233 @default.
• W2157742969 hasConcept C59582021 @default.
• W2157742969 hasConcept C84597430 @default.
• W2157742969 hasConcept C86803240 @default.
• W2157742969 hasConceptScore W2157742969C104317684 @default.
• W2157742969 hasConceptScore W2157742969C122735190 @default.
• W2157742969 hasConceptScore W2157742969C126619667 @default.
• W2157742969 hasConceptScore W2157742969C141231307 @default.
• W2157742969 hasConceptScore W2157742969C153911025 @default.
• W2157742969 hasConceptScore W2157742969C165525559 @default.
• W2157742969 hasConceptScore W2157742969C176944494 @default.
• W2157742969 hasConceptScore W2157742969C187882448 @default.
• W2157742969 hasConceptScore W2157742969C207332259 @default.
• W2157742969 hasConceptScore W2157742969C2781114197 @default.
• W2157742969 hasConceptScore W2157742969C3020804800 @default.
• W2157742969 hasConceptScore W2157742969C30481170 @default.
• W2157742969 hasConceptScore W2157742969C35101798 @default.
• W2157742969 hasConceptScore W2157742969C36823959 @default.
• W2157742969 hasConceptScore W2157742969C501734568 @default.
• W2157742969 hasConceptScore W2157742969C54355233 @default.
• W2157742969 hasConceptScore W2157742969C59582021 @default.
• W2157742969 hasConceptScore W2157742969C84597430 @default.
• W2157742969 hasConceptScore W2157742969C86803240 @default.
• W2157742969 hasIssue "7" @default.
• W2157742969 hasLocation W21577429691 @default.
• W2157742969 hasLocation W21577429692 @default.
• W2157742969 hasLocation W21577429693 @default.
• W2157742969 hasOpenAccess W2157742969 @default.
• W2157742969 hasPrimaryLocation W21577429691 @default.
• W2157742969 hasRelatedWork W1490366996 @default.
• W2157742969 hasRelatedWork W2008510086 @default.
• W2157742969 hasRelatedWork W2022548623 @default.
• W2157742969 hasRelatedWork W2025770878 @default.
• W2157742969 hasRelatedWork W2105652618 @default.
• W2157742969 hasRelatedWork W2114026363 @default.
• W2157742969 hasRelatedWork W2144816373 @default.

• next