FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1551152196> ?p ?o ?g. }

• W1551152196 endingPage "1000" @default.
• W1551152196 startingPage "987" @default.
• W1551152196 abstract "Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the tandem array of genes encoding the red- and green-cone pigments. In 24 subjects, eight genotypes were found that would be predicted to eliminate the function of all of the genes within the array. As observed in an earlier study, the rearrangements involve either deletion of a locus control region adjacent to the gene array or loss of function via homologous recombination and point mutation. One inactivating mutation, Cys203-to-Arg, was found in 15 probands who carry single genes and in both visual pigment genes in one subject whose array has two genes. This mutation was also found in at least one of the visual pigment genes in 1 subject whose array has multiple genes and in 2 of 321 control subjects, suggesting that preexisting Cys203-to-Arg mutations constitute a reservoir of chromosomes that are predisposed to generate blue-cone-monochromat genotypes by unequal homologous recombination and/or gene conversion. Two other point mutations were identified: (a) Arg247-to-Ter in one subject with a single red-pigment gene and (b) Pro307-to-Leu in one subject with a single 5' red-3' green hybrid gene. The observed heterogeneity of genotypes points to the existence of multiple one- and two-step mutational pathways to blue-cone monochromacy." @default.
• W1551152196 created "2016-06-24" @default.
• W1551152196 creator A5011171560 @default.
• W1551152196 creator A5012850440 @default.
• W1551152196 creator A5015532094 @default.
• W1551152196 creator A5017458768 @default.
• W1551152196 creator A5027466784 @default.
• W1551152196 creator A5036422156 @default.
• W1551152196 creator A5037669782 @default.
• W1551152196 creator A5037906477 @default.
• W1551152196 creator A5043583349 @default.
• W1551152196 creator A5061680067 @default.
• W1551152196 creator A5070016464 @default.
• W1551152196 creator A5070275496 @default.
• W1551152196 creator A5074354899 @default.
• W1551152196 creator A5084467136 @default.
• W1551152196 creator A5087767167 @default.
• W1551152196 creator A5089697603 @default.
• W1551152196 creator A5090739314 @default.
• W1551152196 date "1993-11-01" @default.
• W1551152196 modified "2023-10-14" @default.
• W1551152196 title "Genetic heterogeneity among blue-cone monochromats." @default.
• W1551152196 cites W1584684122 @default.
• W1551152196 cites W1796494182 @default.
• W1551152196 cites W1982498248 @default.
• W1551152196 cites W1984917385 @default.
• W1551152196 cites W1989030947 @default.
• W1551152196 cites W1990113746 @default.
• W1551152196 cites W1990208985 @default.
• W1551152196 cites W1993620919 @default.
• W1551152196 cites W2019875735 @default.
• W1551152196 cites W2026668740 @default.
• W1551152196 cites W2048481264 @default.
• W1551152196 cites W2049492636 @default.
• W1551152196 cites W2061921541 @default.
• W1551152196 cites W2064319275 @default.
• W1551152196 cites W2074778021 @default.
• W1551152196 cites W2085583092 @default.
• W1551152196 cites W2094967199 @default.
• W1551152196 cites W2105549090 @default.
• W1551152196 cites W2109794416 @default.
• W1551152196 cites W2118493720 @default.
• W1551152196 cites W2144109124 @default.
• W1551152196 cites W2170256522 @default.
• W1551152196 cites W71797339 @default.
• W1551152196 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1682301" @default.
• W1551152196 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8213841" @default.
• W1551152196 hasPublicationYear "1993" @default.
• W1551152196 type Work @default.
• W1551152196 sameAs 1551152196 @default.
• W1551152196 citedByCount "69" @default.
• W1551152196 countsByYear W15511521962012 @default.
• W1551152196 countsByYear W15511521962013 @default.
• W1551152196 countsByYear W15511521962014 @default.
• W1551152196 countsByYear W15511521962015 @default.
• W1551152196 countsByYear W15511521962016 @default.
• W1551152196 countsByYear W15511521962017 @default.
• W1551152196 countsByYear W15511521962018 @default.
• W1551152196 countsByYear W15511521962020 @default.
• W1551152196 countsByYear W15511521962021 @default.
• W1551152196 countsByYear W15511521962022 @default.
• W1551152196 countsByYear W15511521962023 @default.
• W1551152196 crossrefType "journal-article" @default.
• W1551152196 hasAuthorship W1551152196A5011171560 @default.
• W1551152196 hasAuthorship W1551152196A5012850440 @default.
• W1551152196 hasAuthorship W1551152196A5015532094 @default.
• W1551152196 hasAuthorship W1551152196A5017458768 @default.
• W1551152196 hasAuthorship W1551152196A5027466784 @default.
• W1551152196 hasAuthorship W1551152196A5036422156 @default.
• W1551152196 hasAuthorship W1551152196A5037669782 @default.
• W1551152196 hasAuthorship W1551152196A5037906477 @default.
• W1551152196 hasAuthorship W1551152196A5043583349 @default.
• W1551152196 hasAuthorship W1551152196A5061680067 @default.
• W1551152196 hasAuthorship W1551152196A5070016464 @default.
• W1551152196 hasAuthorship W1551152196A5070275496 @default.
• W1551152196 hasAuthorship W1551152196A5074354899 @default.
• W1551152196 hasAuthorship W1551152196A5084467136 @default.
• W1551152196 hasAuthorship W1551152196A5087767167 @default.
• W1551152196 hasAuthorship W1551152196A5089697603 @default.
• W1551152196 hasAuthorship W1551152196A5090739314 @default.
• W1551152196 hasConcept C104317684 @default.
• W1551152196 hasConcept C115220002 @default.
• W1551152196 hasConcept C156695909 @default.
• W1551152196 hasConcept C176944494 @default.
• W1551152196 hasConcept C501734568 @default.
• W1551152196 hasConcept C54355233 @default.
• W1551152196 hasConcept C64894306 @default.
• W1551152196 hasConcept C84597430 @default.
• W1551152196 hasConcept C86803240 @default.
• W1551152196 hasConceptScore W1551152196C104317684 @default.
• W1551152196 hasConceptScore W1551152196C115220002 @default.
• W1551152196 hasConceptScore W1551152196C156695909 @default.
• W1551152196 hasConceptScore W1551152196C176944494 @default.
• W1551152196 hasConceptScore W1551152196C501734568 @default.
• W1551152196 hasConceptScore W1551152196C54355233 @default.
• W1551152196 hasConceptScore W1551152196C64894306 @default.
• W1551152196 hasConceptScore W1551152196C84597430 @default.
• W1551152196 hasConceptScore W1551152196C86803240 @default.

• next