FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1965450992> ?p ?o ?g. }

• W1965450992 endingPage "530" @default.
• W1965450992 startingPage "524" @default.
• W1965450992 abstract "A survey of Huntington9s disease (HD) in Northern Ireland, with a population of 1.5 million, has shown a 1991 prevalence rate of 6.4/100,000. Virtually complete ascertainment was achieved, enabling prevalence rate estimates and age statistics to be calculated over the last 20 years. The prevalence rate is similar to the high prevalence rates of HD found in most European populations, suggesting the presence of either one extremely ancient or a number of separate mutational origins, resulting in a uniform European HD prevalence. The ages at diagnosis and duration of the disease are similar to previous studies, suggesting a consistent effect of the HD gene in all families. Estimates of heterozygote frequency (HF), direct and indirect mutation rate, fertility, and genetic fitness (W) were made. Reliable HF estimates gave values between 10 and 11 x 10(-5). The direct and indirect mutation rates were 0.32 x 10(-6) and 1.05 x 10(-6) respectively. W was increased in the affected HD population but decreased in the at risk population. Fertility in HD is not reduced, but it appears that at risk patients have actively limited their family size. Factors responsible include, among others, the fear of developing HD and genetic counselling of families. This is the first published epidemiological survey to include ascertainment data in a population both before and after isolation of the HD gene, and with the diagnosis in virtually all patients confirmed by DNA mutation testing." @default.
• W1965450992 created "2016-06-24" @default.
• W1965450992 creator A5005963418 @default.
• W1965450992 creator A5040296643 @default.
• W1965450992 creator A5059254665 @default.
• W1965450992 date "1995-07-01" @default.
• W1965450992 modified "2023-09-25" @default.
• W1965450992 title "The epidemiology of Huntington's disease in Northern Ireland." @default.
• W1965450992 cites W1514959625 @default.
• W1965450992 cites W1570351034 @default.
• W1965450992 cites W167107965 @default.
• W1965450992 cites W1835330117 @default.
• W1965450992 cites W194391099 @default.
• W1965450992 cites W1971253724 @default.
• W1965450992 cites W1974371992 @default.
• W1965450992 cites W1975078475 @default.
• W1965450992 cites W1984074306 @default.
• W1965450992 cites W1984688281 @default.
• W1965450992 cites W2005004783 @default.
• W1965450992 cites W2007576775 @default.
• W1965450992 cites W2020294862 @default.
• W1965450992 cites W2034838054 @default.
• W1965450992 cites W2035070579 @default.
• W1965450992 cites W2035755391 @default.
• W1965450992 cites W2037403018 @default.
• W1965450992 cites W2044032338 @default.
• W1965450992 cites W2047909107 @default.
• W1965450992 cites W2054685530 @default.
• W1965450992 cites W2054703193 @default.
• W1965450992 cites W2086083721 @default.
• W1965450992 cites W2119883684 @default.
• W1965450992 cites W2121642311 @default.
• W1965450992 cites W2121988160 @default.
• W1965450992 cites W2138575738 @default.
• W1965450992 cites W2166224121 @default.
• W1965450992 cites W2168903887 @default.
• W1965450992 cites W2300091883 @default.
• W1965450992 cites W2315599586 @default.
• W1965450992 cites W2317137640 @default.
• W1965450992 cites W2417223659 @default.
• W1965450992 cites W259057805 @default.
• W1965450992 cites W2985532302 @default.
• W1965450992 cites W300663878 @default.
• W1965450992 cites W4248619609 @default.
• W1965450992 cites W2436462038 @default.
• W1965450992 doi "https://doi.org/10.1136/jmg.32.7.524" @default.
• W1965450992 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1050544" @default.
• W1965450992 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7562964" @default.
• W1965450992 hasPublicationYear "1995" @default.
• W1965450992 type Work @default.
• W1965450992 sameAs 1965450992 @default.
• W1965450992 citedByCount "59" @default.
• W1965450992 countsByYear W19654509922012 @default.
• W1965450992 countsByYear W19654509922013 @default.
• W1965450992 countsByYear W19654509922014 @default.
• W1965450992 countsByYear W19654509922015 @default.
• W1965450992 countsByYear W19654509922016 @default.
• W1965450992 countsByYear W19654509922017 @default.
• W1965450992 countsByYear W19654509922018 @default.
• W1965450992 countsByYear W19654509922021 @default.
• W1965450992 countsByYear W19654509922022 @default.
• W1965450992 countsByYear W19654509922023 @default.
• W1965450992 crossrefType "journal-article" @default.
• W1965450992 hasAuthorship W1965450992A5005963418 @default.
• W1965450992 hasAuthorship W1965450992A5040296643 @default.
• W1965450992 hasAuthorship W1965450992A5059254665 @default.
• W1965450992 hasBestOaLocation W19654509921 @default.
• W1965450992 hasConcept C107130276 @default.
• W1965450992 hasConcept C126322002 @default.
• W1965450992 hasConcept C144024400 @default.
• W1965450992 hasConcept C149923435 @default.
• W1965450992 hasConcept C177860879 @default.
• W1965450992 hasConcept C186079640 @default.
• W1965450992 hasConcept C2779134260 @default.
• W1965450992 hasConcept C2908647359 @default.
• W1965450992 hasConcept C518429986 @default.
• W1965450992 hasConcept C54355233 @default.
• W1965450992 hasConcept C71924100 @default.
• W1965450992 hasConcept C86803240 @default.
• W1965450992 hasConcept C98638677 @default.
• W1965450992 hasConceptScore W1965450992C107130276 @default.
• W1965450992 hasConceptScore W1965450992C126322002 @default.
• W1965450992 hasConceptScore W1965450992C144024400 @default.
• W1965450992 hasConceptScore W1965450992C149923435 @default.
• W1965450992 hasConceptScore W1965450992C177860879 @default.
• W1965450992 hasConceptScore W1965450992C186079640 @default.
• W1965450992 hasConceptScore W1965450992C2779134260 @default.
• W1965450992 hasConceptScore W1965450992C2908647359 @default.
• W1965450992 hasConceptScore W1965450992C518429986 @default.
• W1965450992 hasConceptScore W1965450992C54355233 @default.
• W1965450992 hasConceptScore W1965450992C71924100 @default.
• W1965450992 hasConceptScore W1965450992C86803240 @default.
• W1965450992 hasConceptScore W1965450992C98638677 @default.
• W1965450992 hasIssue "7" @default.
• W1965450992 hasLocation W19654509921 @default.
• W1965450992 hasLocation W19654509922 @default.
• W1965450992 hasLocation W19654509923 @default.
• W1965450992 hasLocation W19654509924 @default.

• next