Matches in SemOpenAlex for { <https://semopenalex.org/work/W14214916> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W14214916 endingPage "22" @default.
- W14214916 startingPage "1818" @default.
- W14214916 abstract "To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa.The 22 exons of the PDE6C gene were screened for mutations either by denaturing gradient gel electrophoresis and single-strand conformation polymorphism electrophoresis (SSCP) or by SSCP alone; variants were sequenced directly.Although many sequence variants were found, none could be associated with disease.The results show that PDE6C was not the site of the amutations responsible for the types of inherited retinal degenerations analyzed in the large population of patients 'in the present study. The types of degeneration included those that predominantly affect cone-mediated function (cone and cone-rod dystrophies) or rod-mediated function (retinitis pigmentosa) or that have a predilection for disease in the macula (macular dystrophies)." @default.
- W14214916 created "2016-06-24" @default.
- W14214916 creator A5012850440 @default.
- W14214916 creator A5014756065 @default.
- W14214916 creator A5024132821 @default.
- W14214916 creator A5025069731 @default.
- W14214916 creator A5026064711 @default.
- W14214916 creator A5036422156 @default.
- W14214916 creator A5044539155 @default.
- W14214916 creator A5057525528 @default.
- W14214916 creator A5073653912 @default.
- W14214916 creator A5075246209 @default.
- W14214916 creator A5078223640 @default.
- W14214916 date "1999-07-01" @default.
- W14214916 modified "2023-09-23" @default.
- W14214916 title "Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations." @default.
- W14214916 cites W1970335747 @default.
- W14214916 cites W1974670959 @default.
- W14214916 cites W1991544676 @default.
- W14214916 cites W2010900542 @default.
- W14214916 cites W2025299744 @default.
- W14214916 cites W2025611062 @default.
- W14214916 cites W2065599814 @default.
- W14214916 cites W2087370321 @default.
- W14214916 cites W2115149771 @default.
- W14214916 cites W2125422830 @default.
- W14214916 cites W2169633574 @default.
- W14214916 cites W3021597811 @default.
- W14214916 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10393054" @default.
- W14214916 hasPublicationYear "1999" @default.
- W14214916 type Work @default.
- W14214916 sameAs 14214916 @default.
- W14214916 citedByCount "6" @default.
- W14214916 crossrefType "journal-article" @default.
- W14214916 hasAuthorship W14214916A5012850440 @default.
- W14214916 hasAuthorship W14214916A5014756065 @default.
- W14214916 hasAuthorship W14214916A5024132821 @default.
- W14214916 hasAuthorship W14214916A5025069731 @default.
- W14214916 hasAuthorship W14214916A5026064711 @default.
- W14214916 hasAuthorship W14214916A5036422156 @default.
- W14214916 hasAuthorship W14214916A5044539155 @default.
- W14214916 hasAuthorship W14214916A5057525528 @default.
- W14214916 hasAuthorship W14214916A5073653912 @default.
- W14214916 hasAuthorship W14214916A5075246209 @default.
- W14214916 hasAuthorship W14214916A5078223640 @default.
- W14214916 hasConcept C104317684 @default.
- W14214916 hasConcept C129219603 @default.
- W14214916 hasConcept C131667965 @default.
- W14214916 hasConcept C153911025 @default.
- W14214916 hasConcept C2777017193 @default.
- W14214916 hasConcept C2780827179 @default.
- W14214916 hasConcept C2781040256 @default.
- W14214916 hasConcept C2781114197 @default.
- W14214916 hasConcept C36823959 @default.
- W14214916 hasConcept C54355233 @default.
- W14214916 hasConcept C55493867 @default.
- W14214916 hasConcept C86803240 @default.
- W14214916 hasConceptScore W14214916C104317684 @default.
- W14214916 hasConceptScore W14214916C129219603 @default.
- W14214916 hasConceptScore W14214916C131667965 @default.
- W14214916 hasConceptScore W14214916C153911025 @default.
- W14214916 hasConceptScore W14214916C2777017193 @default.
- W14214916 hasConceptScore W14214916C2780827179 @default.
- W14214916 hasConceptScore W14214916C2781040256 @default.
- W14214916 hasConceptScore W14214916C2781114197 @default.
- W14214916 hasConceptScore W14214916C36823959 @default.
- W14214916 hasConceptScore W14214916C54355233 @default.
- W14214916 hasConceptScore W14214916C55493867 @default.
- W14214916 hasConceptScore W14214916C86803240 @default.
- W14214916 hasIssue "8" @default.
- W14214916 hasLocation W142149161 @default.
- W14214916 hasOpenAccess W14214916 @default.
- W14214916 hasPrimaryLocation W142149161 @default.
- W14214916 hasRelatedWork W118946286 @default.
- W14214916 hasRelatedWork W1256453218 @default.
- W14214916 hasRelatedWork W1571786712 @default.
- W14214916 hasRelatedWork W1723246153 @default.
- W14214916 hasRelatedWork W1984284572 @default.
- W14214916 hasRelatedWork W2085914050 @default.
- W14214916 hasRelatedWork W2124571440 @default.
- W14214916 hasRelatedWork W2127274931 @default.
- W14214916 hasRelatedWork W2149567057 @default.
- W14214916 hasRelatedWork W2403772566 @default.
- W14214916 hasVolume "40" @default.
- W14214916 isParatext "false" @default.
- W14214916 isRetracted "false" @default.
- W14214916 magId "14214916" @default.
- W14214916 workType "article" @default.