Matches in SemOpenAlex for { <https://semopenalex.org/work/W1905960701> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W1905960701 endingPage "7" @default.
- W1905960701 startingPage "705" @default.
- W1905960701 abstract "Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous disorders characterised by night blindness, constriction of visual field, and dystrophic changes of the retina. Previous genetic studies have shown extensive allelic and non-allelic genetic heterogeneity of RP. Here we describe an Indian family with multiple consanguineous marriages and a total of four patients with autosomal recessive (AR) RP. The homozygosity mapping strategy was successfully used and indicated close linkage between the disease locus and D2S380, D2S441, D2S291, and D2S1394 with maximum lod scores between 1.51-3.07 at theta=0.00. The analysis of multiply informative meioses maps the locus (RP28) for ARRP in this family between D1S1337 and D2S286 on 2p11-p15. The involvement of visinin (VSNL1), a promising candidate gene assigned to chromosome 2p by previous studies, has been excluded by the absence of linkage." @default.
- W1905960701 created "2016-06-24" @default.
- W1905960701 creator A5022310863 @default.
- W1905960701 creator A5022548908 @default.
- W1905960701 creator A5031292412 @default.
- W1905960701 creator A5067293009 @default.
- W1905960701 creator A5081869789 @default.
- W1905960701 date "1999-09-01" @default.
- W1905960701 modified "2023-09-23" @default.
- W1905960701 title "Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family." @default.
- W1905960701 cites W1799877731 @default.
- W1905960701 cites W1843009580 @default.
- W1905960701 cites W1988276998 @default.
- W1905960701 cites W2045323844 @default.
- W1905960701 cites W2076387102 @default.
- W1905960701 cites W2097949347 @default.
- W1905960701 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1734432" @default.
- W1905960701 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10507729" @default.
- W1905960701 hasPublicationYear "1999" @default.
- W1905960701 type Work @default.
- W1905960701 sameAs 1905960701 @default.
- W1905960701 citedByCount "11" @default.
- W1905960701 countsByYear W19059607012012 @default.
- W1905960701 countsByYear W19059607012015 @default.
- W1905960701 countsByYear W19059607012018 @default.
- W1905960701 countsByYear W19059607012022 @default.
- W1905960701 crossrefType "journal-article" @default.
- W1905960701 hasAuthorship W1905960701A5022310863 @default.
- W1905960701 hasAuthorship W1905960701A5022548908 @default.
- W1905960701 hasAuthorship W1905960701A5031292412 @default.
- W1905960701 hasAuthorship W1905960701A5067293009 @default.
- W1905960701 hasAuthorship W1905960701A5081869789 @default.
- W1905960701 hasConcept C104317684 @default.
- W1905960701 hasConcept C122735190 @default.
- W1905960701 hasConcept C127716648 @default.
- W1905960701 hasConcept C130895681 @default.
- W1905960701 hasConcept C142870003 @default.
- W1905960701 hasConcept C16671776 @default.
- W1905960701 hasConcept C180754005 @default.
- W1905960701 hasConcept C2779923321 @default.
- W1905960701 hasConcept C2781114197 @default.
- W1905960701 hasConcept C30481170 @default.
- W1905960701 hasConcept C54355233 @default.
- W1905960701 hasConcept C63971535 @default.
- W1905960701 hasConcept C64618202 @default.
- W1905960701 hasConcept C84597430 @default.
- W1905960701 hasConcept C86803240 @default.
- W1905960701 hasConcept C97603047 @default.
- W1905960701 hasConceptScore W1905960701C104317684 @default.
- W1905960701 hasConceptScore W1905960701C122735190 @default.
- W1905960701 hasConceptScore W1905960701C127716648 @default.
- W1905960701 hasConceptScore W1905960701C130895681 @default.
- W1905960701 hasConceptScore W1905960701C142870003 @default.
- W1905960701 hasConceptScore W1905960701C16671776 @default.
- W1905960701 hasConceptScore W1905960701C180754005 @default.
- W1905960701 hasConceptScore W1905960701C2779923321 @default.
- W1905960701 hasConceptScore W1905960701C2781114197 @default.
- W1905960701 hasConceptScore W1905960701C30481170 @default.
- W1905960701 hasConceptScore W1905960701C54355233 @default.
- W1905960701 hasConceptScore W1905960701C63971535 @default.
- W1905960701 hasConceptScore W1905960701C64618202 @default.
- W1905960701 hasConceptScore W1905960701C84597430 @default.
- W1905960701 hasConceptScore W1905960701C86803240 @default.
- W1905960701 hasConceptScore W1905960701C97603047 @default.
- W1905960701 hasIssue "9" @default.
- W1905960701 hasLocation W19059607011 @default.
- W1905960701 hasOpenAccess W1905960701 @default.
- W1905960701 hasPrimaryLocation W19059607011 @default.
- W1905960701 hasRelatedWork W1905960701 @default.
- W1905960701 hasRelatedWork W1988215545 @default.
- W1905960701 hasRelatedWork W2000330672 @default.
- W1905960701 hasRelatedWork W2001228952 @default.
- W1905960701 hasRelatedWork W2017417830 @default.
- W1905960701 hasRelatedWork W2039102963 @default.
- W1905960701 hasRelatedWork W2061676234 @default.
- W1905960701 hasRelatedWork W2064342289 @default.
- W1905960701 hasRelatedWork W2126669703 @default.
- W1905960701 hasRelatedWork W2158988043 @default.
- W1905960701 hasVolume "36" @default.
- W1905960701 isParatext "false" @default.
- W1905960701 isRetracted "false" @default.
- W1905960701 magId "1905960701" @default.
- W1905960701 workType "article" @default.