FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1994347885> ?p ?o ?g. }

• W1994347885 endingPage "314" @default.
• W1994347885 startingPage "310" @default.
• W1994347885 abstract "beta-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the beta-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionally. The present study constitutes an extensive molecular characterization of this disease in a small, highly inbred ethnic group with a high incidence of beta-thalassemia--the Jews of Kurdistan. An unusual mutational diversity was observed. In 42 sibships 13 different mutations were identified, of which 3 are newly discovered: a C----A transversion at -88 to the cap site, a frameshift in codon 36/37, and an A----G transition in the polyadenylylation signal. Four of the mutations are unique to Kurdish Jews and have not been discovered in any other population. A fifth was found outside Kurdish Jews only in an Iranian from Khuzistan, a region bordering Kurdistan. Two-thirds of the mutant chromosomes carry the mutations unique to Kurdish Jews. We traced the origin of the mutations to specific geographic regions within Kurdistan. This information, supported by haplotype analysis, suggests that thalassemia in central Kurdistan (northern Iraq) has evolved primarily from multiple mutational events. In Turkish Kurdistan, the primary mechanism is genetic admixture with the local population. In Iranian Kurdistan, a founder effect appears to be partly responsible. We conclude that several evolutionary mechanisms contributed to the evolution of beta-thalassemia in this small ethnic isolate." @default.
• W1994347885 created "2016-06-24" @default.
• W1994347885 creator A5010276968 @default.
• W1994347885 creator A5012346653 @default.
• W1994347885 creator A5017907955 @default.
• W1994347885 creator A5041617416 @default.
• W1994347885 creator A5052997253 @default.
• W1994347885 creator A5064084333 @default.
• W1994347885 creator A5082472879 @default.
• W1994347885 creator A5084368084 @default.
• W1994347885 creator A5090750991 @default.
• W1994347885 date "1991-01-01" @default.
• W1994347885 modified "2023-09-23" @default.
• W1994347885 title "Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan." @default.
• W1994347885 cites W1480769757 @default.
• W1994347885 cites W1505715400 @default.
• W1994347885 cites W1624345631 @default.
• W1994347885 cites W1997521650 @default.
• W1994347885 cites W2012061944 @default.
• W1994347885 cites W2017956946 @default.
• W1994347885 cites W2023374624 @default.
• W1994347885 cites W2032118018 @default.
• W1994347885 cites W2037243577 @default.
• W1994347885 cites W2053009004 @default.
• W1994347885 cites W2063450941 @default.
• W1994347885 cites W2081786551 @default.
• W1994347885 cites W2089402545 @default.
• W1994347885 cites W2102743858 @default.
• W1994347885 cites W2113857029 @default.
• W1994347885 cites W2143066383 @default.
• W1994347885 cites W2277318267 @default.
• W1994347885 cites W2321299725 @default.
• W1994347885 cites W2342847315 @default.
• W1994347885 cites W2402096382 @default.
• W1994347885 cites W2410469633 @default.
• W1994347885 cites W2412949716 @default.
• W1994347885 cites W84450464 @default.
• W1994347885 cites W947450170 @default.
• W1994347885 doi "https://doi.org/10.1073/pnas.88.1.310" @default.
• W1994347885 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/50800" @default.
• W1994347885 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1986379" @default.
• W1994347885 hasPublicationYear "1991" @default.
• W1994347885 type Work @default.
• W1994347885 sameAs 1994347885 @default.
• W1994347885 citedByCount "100" @default.
• W1994347885 countsByYear W19943478852012 @default.
• W1994347885 countsByYear W19943478852013 @default.
• W1994347885 countsByYear W19943478852015 @default.
• W1994347885 countsByYear W19943478852016 @default.
• W1994347885 countsByYear W19943478852017 @default.
• W1994347885 countsByYear W19943478852018 @default.
• W1994347885 countsByYear W19943478852019 @default.
• W1994347885 countsByYear W19943478852020 @default.
• W1994347885 countsByYear W19943478852021 @default.
• W1994347885 countsByYear W19943478852023 @default.
• W1994347885 crossrefType "journal-article" @default.
• W1994347885 hasAuthorship W1994347885A5010276968 @default.
• W1994347885 hasAuthorship W1994347885A5012346653 @default.
• W1994347885 hasAuthorship W1994347885A5017907955 @default.
• W1994347885 hasAuthorship W1994347885A5041617416 @default.
• W1994347885 hasAuthorship W1994347885A5052997253 @default.
• W1994347885 hasAuthorship W1994347885A5064084333 @default.
• W1994347885 hasAuthorship W1994347885A5082472879 @default.
• W1994347885 hasAuthorship W1994347885A5084368084 @default.
• W1994347885 hasAuthorship W1994347885A5090750991 @default.
• W1994347885 hasBestOaLocation W19943478851 @default.
• W1994347885 hasConcept C104317684 @default.
• W1994347885 hasConcept C137403100 @default.
• W1994347885 hasConcept C144024400 @default.
• W1994347885 hasConcept C149923435 @default.
• W1994347885 hasConcept C176944494 @default.
• W1994347885 hasConcept C180754005 @default.
• W1994347885 hasConcept C19165224 @default.
• W1994347885 hasConcept C195054827 @default.
• W1994347885 hasConcept C197754878 @default.
• W1994347885 hasConcept C2777799968 @default.
• W1994347885 hasConcept C2777940137 @default.
• W1994347885 hasConcept C2908647359 @default.
• W1994347885 hasConcept C29906990 @default.
• W1994347885 hasConcept C501734568 @default.
• W1994347885 hasConcept C54355233 @default.
• W1994347885 hasConcept C64872895 @default.
• W1994347885 hasConcept C86803240 @default.
• W1994347885 hasConceptScore W1994347885C104317684 @default.
• W1994347885 hasConceptScore W1994347885C137403100 @default.
• W1994347885 hasConceptScore W1994347885C144024400 @default.
• W1994347885 hasConceptScore W1994347885C149923435 @default.
• W1994347885 hasConceptScore W1994347885C176944494 @default.
• W1994347885 hasConceptScore W1994347885C180754005 @default.
• W1994347885 hasConceptScore W1994347885C19165224 @default.
• W1994347885 hasConceptScore W1994347885C195054827 @default.
• W1994347885 hasConceptScore W1994347885C197754878 @default.
• W1994347885 hasConceptScore W1994347885C2777799968 @default.
• W1994347885 hasConceptScore W1994347885C2777940137 @default.
• W1994347885 hasConceptScore W1994347885C2908647359 @default.
• W1994347885 hasConceptScore W1994347885C29906990 @default.
• W1994347885 hasConceptScore W1994347885C501734568 @default.
• W1994347885 hasConceptScore W1994347885C54355233 @default.

• next