FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2051233843> ?p ?o ?g. }

• W2051233843 endingPage "206" @default.
• W2051233843 startingPage "200" @default.
• W2051233843 abstract "Sicily, at the center of the Mediterranean, has been the meeting place of Eastern and Western civilizations, and in the Sicilian population the presence of many different alterations in the globin gene clusters can surely be considered testimony of past colonizations. From 1975 to 1994, 100,000 Sicilian subjects were screened by us to monitor the presence of hemoglobin (Hb) structural variants. In this paper we present the data gathered, emphasizing the high incidence (2.5%) of carriers of at least one abnormal Hb, and the great heterogeneity of globin molecular defects on the island. Twenty-six different mutations were identified: the most common occur in the beta-globin gene (beta(S), beta(C), deltabeta(Lepore), beta(G-San José), beta(O-Arab), but also quite frequent is the mutated allele alpha(J-Oxford). The chromosome haplotypes associated with some of them were characterized. Two uncommon Hbs, Copenhagen and D Punjab, and some 18 rare variants complete the wide spectrum of structural alterations of globin genes in Sicily. We think they are de novo mutations prevalently. It is not possible to exclude that the presence of a few of them is related to migratory phenomena, particularly from North Africa and East Asia. Numerous thalassemic alleles complete the picture of globin gene mutations in Silicy." @default.
• W2051233843 created "2016-06-24" @default.
• W2051233843 creator A5027705160 @default.
• W2051233843 creator A5035960031 @default.
• W2051233843 creator A5068508427 @default.
• W2051233843 creator A5073590865 @default.
• W2051233843 creator A5076597586 @default.
• W2051233843 date "1997-03-17" @default.
• W2051233843 modified "2023-10-15" @default.
• W2051233843 title "Presence of hemoglobinopathies in Sicily: A historic perspective" @default.
• W2051233843 cites W1587796153 @default.
• W2051233843 cites W175082759 @default.
• W2051233843 cites W1969248085 @default.
• W2051233843 cites W1984560477 @default.
• W2051233843 cites W1984688564 @default.
• W2051233843 cites W1985926923 @default.
• W2051233843 cites W1986740804 @default.
• W2051233843 cites W1998229117 @default.
• W2051233843 cites W2005288170 @default.
• W2051233843 cites W2009535384 @default.
• W2051233843 cites W2010665329 @default.
• W2051233843 cites W2013673311 @default.
• W2051233843 cites W2017993118 @default.
• W2051233843 cites W2024718596 @default.
• W2051233843 cites W2026688843 @default.
• W2051233843 cites W2031758679 @default.
• W2051233843 cites W2047990515 @default.
• W2051233843 cites W2055116065 @default.
• W2051233843 cites W2058680364 @default.
• W2051233843 cites W2067624292 @default.
• W2051233843 cites W2069148284 @default.
• W2051233843 cites W2072320424 @default.
• W2051233843 cites W2076967885 @default.
• W2051233843 cites W2083991807 @default.
• W2051233843 cites W2087065920 @default.
• W2051233843 cites W2110199098 @default.
• W2051233843 cites W2144895699 @default.
• W2051233843 cites W2167434897 @default.
• W2051233843 cites W2171985289 @default.
• W2051233843 cites W2396671976 @default.
• W2051233843 doi "https://doi.org/10.1002/(sici)1096-8628(19970317)69:2<200::aid-ajmg17>3.0.co;2-p" @default.
• W2051233843 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9056562" @default.
• W2051233843 hasPublicationYear "1997" @default.
• W2051233843 type Work @default.
• W2051233843 sameAs 2051233843 @default.
• W2051233843 citedByCount "12" @default.
• W2051233843 countsByYear W20512338432012 @default.
• W2051233843 countsByYear W20512338432014 @default.
• W2051233843 countsByYear W20512338432015 @default.
• W2051233843 countsByYear W20512338432017 @default.
• W2051233843 countsByYear W20512338432020 @default.
• W2051233843 crossrefType "journal-article" @default.
• W2051233843 hasAuthorship W2051233843A5027705160 @default.
• W2051233843 hasAuthorship W2051233843A5035960031 @default.
• W2051233843 hasAuthorship W2051233843A5068508427 @default.
• W2051233843 hasAuthorship W2051233843A5073590865 @default.
• W2051233843 hasAuthorship W2051233843A5076597586 @default.
• W2051233843 hasConcept C104317684 @default.
• W2051233843 hasConcept C125996951 @default.
• W2051233843 hasConcept C138885662 @default.
• W2051233843 hasConcept C144024400 @default.
• W2051233843 hasConcept C149923435 @default.
• W2051233843 hasConcept C180754005 @default.
• W2051233843 hasConcept C197754878 @default.
• W2051233843 hasConcept C2781122314 @default.
• W2051233843 hasConcept C2908647359 @default.
• W2051233843 hasConcept C41895202 @default.
• W2051233843 hasConcept C501734568 @default.
• W2051233843 hasConcept C54355233 @default.
• W2051233843 hasConcept C86803240 @default.
• W2051233843 hasConceptScore W2051233843C104317684 @default.
• W2051233843 hasConceptScore W2051233843C125996951 @default.
• W2051233843 hasConceptScore W2051233843C138885662 @default.
• W2051233843 hasConceptScore W2051233843C144024400 @default.
• W2051233843 hasConceptScore W2051233843C149923435 @default.
• W2051233843 hasConceptScore W2051233843C180754005 @default.
• W2051233843 hasConceptScore W2051233843C197754878 @default.
• W2051233843 hasConceptScore W2051233843C2781122314 @default.
• W2051233843 hasConceptScore W2051233843C2908647359 @default.
• W2051233843 hasConceptScore W2051233843C41895202 @default.
• W2051233843 hasConceptScore W2051233843C501734568 @default.
• W2051233843 hasConceptScore W2051233843C54355233 @default.
• W2051233843 hasConceptScore W2051233843C86803240 @default.
• W2051233843 hasIssue "2" @default.
• W2051233843 hasLocation W20512338431 @default.
• W2051233843 hasLocation W20512338432 @default.
• W2051233843 hasOpenAccess W2051233843 @default.
• W2051233843 hasPrimaryLocation W20512338431 @default.
• W2051233843 hasRelatedWork W1836753393 @default.
• W2051233843 hasRelatedWork W1975253683 @default.
• W2051233843 hasRelatedWork W1979789315 @default.
• W2051233843 hasRelatedWork W1990964743 @default.
• W2051233843 hasRelatedWork W2002328051 @default.
• W2051233843 hasRelatedWork W2036770499 @default.
• W2051233843 hasRelatedWork W2038017527 @default.
• W2051233843 hasRelatedWork W2060631033 @default.
• W2051233843 hasRelatedWork W2119763855 @default.
• W2051233843 hasRelatedWork W4242979853 @default.

• next