FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W99931470> ?p ?o ?g. }

• W99931470 endingPage "300" @default.
• W99931470 startingPage "298" @default.
• W99931470 abstract "Objectives To determine the frequency of heterozygous carriers of the Tay-Sachs disease gene in an asymptomatic Ashkenazi Jewish population and to compare the acceptability of different community testing strategies. Design Pilot survey of carrier rates and community attitudes. Setting Sydney, February 1993 to November 1994. Participants 147 self-or medically referred people of Ashkenazi Jewish origin were tested. Jewish religious, medical and community organisations and leaders were consulted. Outcomes Prevalence of HEXA mutations, client and community preference for different testing and reporting strategies. Results Frequency of heterozygous carriers was 1 in 18, with a relative frequency of the three major allelic variants similar to that in overseas studies. Most subjects were medically referred and preferred individual reporting of their carrier status. Community representatives had serious reservations about this strategy and few orthodox Jews participated in the study. An alternative strategy was developed for future testing. Conclusions Frequency of heterozygous carriers of the Tay-Sachs disease gene was higher than found among Ashkenazi Jews in other countries, possibly because of ascertainment bias. A testing strategy with medical referral and individual reporting of carrier status may not be appropriate for all the community at risk and a modified strategy is necessary." @default.
• W99931470 created "2016-06-24" @default.
• W99931470 creator A5017330754 @default.
• W99931470 creator A5018860994 @default.
• W99931470 creator A5031692439 @default.
• W99931470 creator A5036786269 @default.
• W99931470 creator A5038600242 @default.
• W99931470 creator A5069392463 @default.
• W99931470 creator A5087182049 @default.
• W99931470 creator A5088346886 @default.
• W99931470 creator A5090381937 @default.
• W99931470 date "1995-09-01" @default.
• W99931470 modified "2023-10-18" @default.
• W99931470 title "The Tay‐Sachs disease prevention program in Australia: Sydney pilot study" @default.
• W99931470 cites W1999551590 @default.
• W99931470 cites W2013547804 @default.
• W99931470 cites W2019236806 @default.
• W99931470 cites W2024036407 @default.
• W99931470 cites W2418492905 @default.
• W99931470 cites W4248965207 @default.
• W99931470 cites W4299790506 @default.
• W99931470 doi "https://doi.org/10.5694/j.1326-5377.1995.tb124595.x" @default.
• W99931470 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7565235" @default.
• W99931470 hasPublicationYear "1995" @default.
• W99931470 type Work @default.
• W99931470 sameAs 99931470 @default.
• W99931470 citedByCount "19" @default.
• W99931470 countsByYear W999314702012 @default.
• W99931470 countsByYear W999314702014 @default.
• W99931470 countsByYear W999314702015 @default.
• W99931470 countsByYear W999314702016 @default.
• W99931470 countsByYear W999314702021 @default.
• W99931470 crossrefType "journal-article" @default.
• W99931470 hasAuthorship W99931470A5017330754 @default.
• W99931470 hasAuthorship W99931470A5018860994 @default.
• W99931470 hasAuthorship W99931470A5031692439 @default.
• W99931470 hasAuthorship W99931470A5036786269 @default.
• W99931470 hasAuthorship W99931470A5038600242 @default.
• W99931470 hasAuthorship W99931470A5069392463 @default.
• W99931470 hasAuthorship W99931470A5087182049 @default.
• W99931470 hasAuthorship W99931470A5088346886 @default.
• W99931470 hasAuthorship W99931470A5090381937 @default.
• W99931470 hasConcept C126322002 @default.
• W99931470 hasConcept C137916694 @default.
• W99931470 hasConcept C141071460 @default.
• W99931470 hasConcept C144024400 @default.
• W99931470 hasConcept C149923435 @default.
• W99931470 hasConcept C150152722 @default.
• W99931470 hasConcept C158951850 @default.
• W99931470 hasConcept C166957645 @default.
• W99931470 hasConcept C172680121 @default.
• W99931470 hasConcept C205649164 @default.
• W99931470 hasConcept C2776135927 @default.
• W99931470 hasConcept C2777910003 @default.
• W99931470 hasConcept C2778258057 @default.
• W99931470 hasConcept C2779134260 @default.
• W99931470 hasConcept C2779234561 @default.
• W99931470 hasConcept C2908647359 @default.
• W99931470 hasConcept C512399662 @default.
• W99931470 hasConcept C54355233 @default.
• W99931470 hasConcept C71924100 @default.
• W99931470 hasConcept C74909509 @default.
• W99931470 hasConcept C86803240 @default.
• W99931470 hasConcept C99454951 @default.
• W99931470 hasConceptScore W99931470C126322002 @default.
• W99931470 hasConceptScore W99931470C137916694 @default.
• W99931470 hasConceptScore W99931470C141071460 @default.
• W99931470 hasConceptScore W99931470C144024400 @default.
• W99931470 hasConceptScore W99931470C149923435 @default.
• W99931470 hasConceptScore W99931470C150152722 @default.
• W99931470 hasConceptScore W99931470C158951850 @default.
• W99931470 hasConceptScore W99931470C166957645 @default.
• W99931470 hasConceptScore W99931470C172680121 @default.
• W99931470 hasConceptScore W99931470C205649164 @default.
• W99931470 hasConceptScore W99931470C2776135927 @default.
• W99931470 hasConceptScore W99931470C2777910003 @default.
• W99931470 hasConceptScore W99931470C2778258057 @default.
• W99931470 hasConceptScore W99931470C2779134260 @default.
• W99931470 hasConceptScore W99931470C2779234561 @default.
• W99931470 hasConceptScore W99931470C2908647359 @default.
• W99931470 hasConceptScore W99931470C512399662 @default.
• W99931470 hasConceptScore W99931470C54355233 @default.
• W99931470 hasConceptScore W99931470C71924100 @default.
• W99931470 hasConceptScore W99931470C74909509 @default.
• W99931470 hasConceptScore W99931470C86803240 @default.
• W99931470 hasConceptScore W99931470C99454951 @default.
• W99931470 hasIssue "6" @default.
• W99931470 hasLocation W999314701 @default.
• W99931470 hasOpenAccess W99931470 @default.
• W99931470 hasPrimaryLocation W999314701 @default.
• W99931470 hasRelatedWork W3013276559 @default.
• W99931470 hasRelatedWork W3025319833 @default.
• W99931470 hasRelatedWork W3033274679 @default.
• W99931470 hasRelatedWork W3034828949 @default.
• W99931470 hasRelatedWork W3044936706 @default.
• W99931470 hasRelatedWork W3045505819 @default.
• W99931470 hasRelatedWork W3047351398 @default.
• W99931470 hasRelatedWork W3108505360 @default.

• next