Matches in SemOpenAlex for { <https://semopenalex.org/work/W2061482793> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W2061482793 abstract "Autosomal recessive achromatopsia is a rare disorder characterized by total absent color vision, nystagmus, photophobia, and visual impairment, frequently leading to 'legal blindness'. The primary defect is at the photoreceptor level, with retinal cones being absent or defective. The first locus for this disorder was mapped to chromosome 2q11. Here, we confirm the genetic mapping of a locus discovered in our studies of a kindred with Irish ancestry, but no known consanguinity, in which 5 of 12 children are affected. We have mapped the locus in this disorder in this family to chromosome 8q. Available data now narrow the region containing the putative gene to 1.2 cM." @default.
- W2061482793 created "2016-06-24" @default.
- W2061482793 creator A5003219679 @default.
- W2061482793 creator A5018308986 @default.
- W2061482793 creator A5026023901 @default.
- W2061482793 creator A5029157504 @default.
- W2061482793 creator A5044056739 @default.
- W2061482793 date "1999-07-01" @default.
- W2061482793 modified "2023-09-27" @default.
- W2061482793 title "A locus for autosomal recessive achromatopsia on human chromosome 8q" @default.
- W2061482793 cites W1799877731 @default.
- W2061482793 cites W1972107478 @default.
- W2061482793 cites W2017428806 @default.
- W2061482793 cites W2047510187 @default.
- W2061482793 cites W2097949347 @default.
- W2061482793 cites W2123681689 @default.
- W2061482793 cites W4253023021 @default.
- W2061482793 doi "https://doi.org/10.1034/j.1399-0004.1999.560112.x" @default.
- W2061482793 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10466422" @default.
- W2061482793 hasPublicationYear "1999" @default.
- W2061482793 type Work @default.
- W2061482793 sameAs 2061482793 @default.
- W2061482793 citedByCount "19" @default.
- W2061482793 countsByYear W20614827932012 @default.
- W2061482793 countsByYear W20614827932014 @default.
- W2061482793 countsByYear W20614827932017 @default.
- W2061482793 crossrefType "journal-article" @default.
- W2061482793 hasAuthorship W2061482793A5003219679 @default.
- W2061482793 hasAuthorship W2061482793A5018308986 @default.
- W2061482793 hasAuthorship W2061482793A5026023901 @default.
- W2061482793 hasAuthorship W2061482793A5029157504 @default.
- W2061482793 hasAuthorship W2061482793A5044056739 @default.
- W2061482793 hasConcept C104317684 @default.
- W2061482793 hasConcept C169760540 @default.
- W2061482793 hasConcept C2777906962 @default.
- W2061482793 hasConcept C2779923321 @default.
- W2061482793 hasConcept C2780590625 @default.
- W2061482793 hasConcept C2780827179 @default.
- W2061482793 hasConcept C54355233 @default.
- W2061482793 hasConcept C55493867 @default.
- W2061482793 hasConcept C84597430 @default.
- W2061482793 hasConcept C86803240 @default.
- W2061482793 hasConceptScore W2061482793C104317684 @default.
- W2061482793 hasConceptScore W2061482793C169760540 @default.
- W2061482793 hasConceptScore W2061482793C2777906962 @default.
- W2061482793 hasConceptScore W2061482793C2779923321 @default.
- W2061482793 hasConceptScore W2061482793C2780590625 @default.
- W2061482793 hasConceptScore W2061482793C2780827179 @default.
- W2061482793 hasConceptScore W2061482793C54355233 @default.
- W2061482793 hasConceptScore W2061482793C55493867 @default.
- W2061482793 hasConceptScore W2061482793C84597430 @default.
- W2061482793 hasConceptScore W2061482793C86803240 @default.
- W2061482793 hasLocation W20614827931 @default.
- W2061482793 hasLocation W20614827932 @default.
- W2061482793 hasOpenAccess W2061482793 @default.
- W2061482793 hasPrimaryLocation W20614827931 @default.
- W2061482793 hasRelatedWork W1529760199 @default.
- W2061482793 hasRelatedWork W1799877731 @default.
- W2061482793 hasRelatedWork W1939184057 @default.
- W2061482793 hasRelatedWork W2002782080 @default.
- W2061482793 hasRelatedWork W2010048790 @default.
- W2061482793 hasRelatedWork W2035835646 @default.
- W2061482793 hasRelatedWork W2047510187 @default.
- W2061482793 hasRelatedWork W2070571056 @default.
- W2061482793 hasRelatedWork W2072897672 @default.
- W2061482793 hasRelatedWork W2079601771 @default.
- W2061482793 hasRelatedWork W2097949347 @default.
- W2061482793 hasRelatedWork W2103839548 @default.
- W2061482793 hasRelatedWork W2111637908 @default.
- W2061482793 hasRelatedWork W2119719550 @default.
- W2061482793 hasRelatedWork W2137222303 @default.
- W2061482793 hasRelatedWork W2160794628 @default.
- W2061482793 hasRelatedWork W2162256673 @default.
- W2061482793 hasRelatedWork W2166376927 @default.
- W2061482793 hasRelatedWork W2167652900 @default.
- W2061482793 hasRelatedWork W34577166 @default.
- W2061482793 isParatext "false" @default.
- W2061482793 isRetracted "false" @default.
- W2061482793 magId "2061482793" @default.
- W2061482793 workType "article" @default.