Matches in SemOpenAlex for { <https://semopenalex.org/work/W2015318716> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2015318716 endingPage "426" @default.
- W2015318716 startingPage "422" @default.
- W2015318716 abstract "We describe the molecular characterization of α-globin gene defects in a cohort of 634 Omani patients. A total of 21 different α gene mutations were found in 484 subjects. Overall, we identified three different large deletions, three small deletions, 11 point mutations [two on the α2 polyadenylation signal (polyA) (HBA2: c.*94A>G), and nine α chain variants], three ααα(anti 3.7) triplication, a 21 nucleotide (nt) duplication on the α1 gene and two novel (presumed) polymorphisms on the α 3.7 kb hybrid gene, namely -5 (C>T) and +46 (C>A). Of these defects, 15 have not been previously reported in the Omani population. This large heterogeneity of α-thalassemia (α-thal) observed in the Omani population could be expected in neighboring Arab countries. The high frequency of α-thal, solely or in association with β-globin gene defects, emphasize the necessity of adding α-thal testing to pre marital programs for accurate genetic counseling." @default.
- W2015318716 created "2016-06-24" @default.
- W2015318716 creator A5005073598 @default.
- W2015318716 creator A5018066889 @default.
- W2015318716 creator A5027063444 @default.
- W2015318716 creator A5048171390 @default.
- W2015318716 date "2014-11-05" @default.
- W2015318716 modified "2023-10-16" @default.
- W2015318716 title "Molecular Spectrum of<b>α</b>-Globin Gene Defects in the Omani Population" @default.
- W2015318716 cites W1592569905 @default.
- W2015318716 cites W1969482851 @default.
- W2015318716 cites W2001343882 @default.
- W2015318716 cites W2002623190 @default.
- W2015318716 cites W2037155028 @default.
- W2015318716 cites W2072272460 @default.
- W2015318716 cites W2083048402 @default.
- W2015318716 cites W2094527610 @default.
- W2015318716 cites W2322727060 @default.
- W2015318716 cites W38089710 @default.
- W2015318716 cites W4211199099 @default.
- W2015318716 doi "https://doi.org/10.3109/03630269.2014.976414" @default.
- W2015318716 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25370869" @default.
- W2015318716 hasPublicationYear "2014" @default.
- W2015318716 type Work @default.
- W2015318716 sameAs 2015318716 @default.
- W2015318716 citedByCount "5" @default.
- W2015318716 countsByYear W20153187162015 @default.
- W2015318716 countsByYear W20153187162017 @default.
- W2015318716 countsByYear W20153187162018 @default.
- W2015318716 countsByYear W20153187162019 @default.
- W2015318716 countsByYear W20153187162021 @default.
- W2015318716 crossrefType "journal-article" @default.
- W2015318716 hasAuthorship W2015318716A5005073598 @default.
- W2015318716 hasAuthorship W2015318716A5018066889 @default.
- W2015318716 hasAuthorship W2015318716A5027063444 @default.
- W2015318716 hasAuthorship W2015318716A5048171390 @default.
- W2015318716 hasConcept C104317684 @default.
- W2015318716 hasConcept C125996951 @default.
- W2015318716 hasConcept C142575336 @default.
- W2015318716 hasConcept C150194340 @default.
- W2015318716 hasConcept C153911025 @default.
- W2015318716 hasConcept C176944494 @default.
- W2015318716 hasConcept C2777799968 @default.
- W2015318716 hasConcept C2908647359 @default.
- W2015318716 hasConcept C501734568 @default.
- W2015318716 hasConcept C54355233 @default.
- W2015318716 hasConcept C71924100 @default.
- W2015318716 hasConcept C7602840 @default.
- W2015318716 hasConcept C86803240 @default.
- W2015318716 hasConcept C99454951 @default.
- W2015318716 hasConceptScore W2015318716C104317684 @default.
- W2015318716 hasConceptScore W2015318716C125996951 @default.
- W2015318716 hasConceptScore W2015318716C142575336 @default.
- W2015318716 hasConceptScore W2015318716C150194340 @default.
- W2015318716 hasConceptScore W2015318716C153911025 @default.
- W2015318716 hasConceptScore W2015318716C176944494 @default.
- W2015318716 hasConceptScore W2015318716C2777799968 @default.
- W2015318716 hasConceptScore W2015318716C2908647359 @default.
- W2015318716 hasConceptScore W2015318716C501734568 @default.
- W2015318716 hasConceptScore W2015318716C54355233 @default.
- W2015318716 hasConceptScore W2015318716C71924100 @default.
- W2015318716 hasConceptScore W2015318716C7602840 @default.
- W2015318716 hasConceptScore W2015318716C86803240 @default.
- W2015318716 hasConceptScore W2015318716C99454951 @default.
- W2015318716 hasIssue "6" @default.
- W2015318716 hasLocation W20153187161 @default.
- W2015318716 hasLocation W20153187162 @default.
- W2015318716 hasOpenAccess W2015318716 @default.
- W2015318716 hasPrimaryLocation W20153187161 @default.
- W2015318716 hasRelatedWork W1836753393 @default.
- W2015318716 hasRelatedWork W2028961943 @default.
- W2015318716 hasRelatedWork W2031602100 @default.
- W2015318716 hasRelatedWork W2034646679 @default.
- W2015318716 hasRelatedWork W2043199743 @default.
- W2015318716 hasRelatedWork W2075195274 @default.
- W2015318716 hasRelatedWork W2093286327 @default.
- W2015318716 hasRelatedWork W2172076792 @default.
- W2015318716 hasRelatedWork W2260169894 @default.
- W2015318716 hasRelatedWork W315737334 @default.
- W2015318716 hasVolume "38" @default.
- W2015318716 isParatext "false" @default.
- W2015318716 isRetracted "false" @default.
- W2015318716 magId "2015318716" @default.
- W2015318716 workType "article" @default.