FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2011536532> ?p ?o ?g. }

• W2011536532 abstract "We present two case reports in which an HBD mutation is present with a rare α hemoglobinopathy that substantially complicates the associated phenotype. In the first case, a new δ-globin variant, Hb A2-Pierre-Bénite [δ83(EF7)Gly→Arg; HBD: c.250G>C] is associated with Hb Groene Hart [α119(H2)Pro→Ser (α1); HBA1: c.358C>T], an α-thalassemic variant. In the second case, a δ(+)-thalassemic variant, δ4(A1)Thr→Ile; HBD: c.14C>T, is associated with a newly described deletion of the hypersensitive site 40 (HS-40) region on the α-globin gene cluster. In both patients, a δ-globin mutation was suspected because of an abnormally low Hb A2 level, whereas the α hemoglobinopathy was sought to explain the slight microcytosis and hypochromia presented by the probands." @default.
• W2011536532 created "2016-06-24" @default.
• W2011536532 creator A5030886795 @default.
• W2011536532 creator A5049287452 @default.
• W2011536532 creator A5059625193 @default.
• W2011536532 creator A5091338479 @default.
• W2011536532 date "2013-06-27" @default.
• W2011536532 modified "2023-09-30" @default.
• W2011536532 title "Two Complex Associations of anHBDMutation and a RareαHemoglobinopathy" @default.
• W2011536532 cites W1494247780 @default.
• W2011536532 cites W1585156201 @default.
• W2011536532 cites W1995756028 @default.
• W2011536532 cites W2056543229 @default.
• W2011536532 cites W2087523508 @default.
• W2011536532 cites W2116176481 @default.
• W2011536532 cites W2124158780 @default.
• W2011536532 cites W2126384617 @default.
• W2011536532 cites W2134133283 @default.
• W2011536532 cites W2140556388 @default.
• W2011536532 cites W2143272744 @default.
• W2011536532 cites W2165872327 @default.
• W2011536532 cites W3148416067 @default.
• W2011536532 cites W4252246719 @default.
• W2011536532 cites W2492130407 @default.
• W2011536532 doi "https://doi.org/10.3109/03630269.2013.806331" @default.
• W2011536532 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23806011" @default.
• W2011536532 hasPublicationYear "2013" @default.
• W2011536532 type Work @default.
• W2011536532 sameAs 2011536532 @default.
• W2011536532 citedByCount "1" @default.
• W2011536532 countsByYear W20115365322020 @default.
• W2011536532 crossrefType "journal-article" @default.
• W2011536532 hasAuthorship W2011536532A5030886795 @default.
• W2011536532 hasAuthorship W2011536532A5049287452 @default.
• W2011536532 hasAuthorship W2011536532A5059625193 @default.
• W2011536532 hasAuthorship W2011536532A5091338479 @default.
• W2011536532 hasConcept C104317684 @default.
• W2011536532 hasConcept C12125453 @default.
• W2011536532 hasConcept C125996951 @default.
• W2011536532 hasConcept C126322002 @default.
• W2011536532 hasConcept C127716648 @default.
• W2011536532 hasConcept C188997412 @default.
• W2011536532 hasConcept C2776175824 @default.
• W2011536532 hasConcept C2777216359 @default.
• W2011536532 hasConcept C2777417653 @default.
• W2011536532 hasConcept C2777799968 @default.
• W2011536532 hasConcept C2778248108 @default.
• W2011536532 hasConcept C2778917026 @default.
• W2011536532 hasConcept C2779668550 @default.
• W2011536532 hasConcept C2781376033 @default.
• W2011536532 hasConcept C2781400336 @default.
• W2011536532 hasConcept C501734568 @default.
• W2011536532 hasConcept C54355233 @default.
• W2011536532 hasConcept C71924100 @default.
• W2011536532 hasConcept C86803240 @default.
• W2011536532 hasConceptScore W2011536532C104317684 @default.
• W2011536532 hasConceptScore W2011536532C12125453 @default.
• W2011536532 hasConceptScore W2011536532C125996951 @default.
• W2011536532 hasConceptScore W2011536532C126322002 @default.
• W2011536532 hasConceptScore W2011536532C127716648 @default.
• W2011536532 hasConceptScore W2011536532C188997412 @default.
• W2011536532 hasConceptScore W2011536532C2776175824 @default.
• W2011536532 hasConceptScore W2011536532C2777216359 @default.
• W2011536532 hasConceptScore W2011536532C2777417653 @default.
• W2011536532 hasConceptScore W2011536532C2777799968 @default.
• W2011536532 hasConceptScore W2011536532C2778248108 @default.
• W2011536532 hasConceptScore W2011536532C2778917026 @default.
• W2011536532 hasConceptScore W2011536532C2779668550 @default.
• W2011536532 hasConceptScore W2011536532C2781376033 @default.
• W2011536532 hasConceptScore W2011536532C2781400336 @default.
• W2011536532 hasConceptScore W2011536532C501734568 @default.
• W2011536532 hasConceptScore W2011536532C54355233 @default.
• W2011536532 hasConceptScore W2011536532C71924100 @default.
• W2011536532 hasConceptScore W2011536532C86803240 @default.
• W2011536532 hasLocation W20115365321 @default.
• W2011536532 hasLocation W20115365322 @default.
• W2011536532 hasOpenAccess W2011536532 @default.
• W2011536532 hasPrimaryLocation W20115365321 @default.
• W2011536532 hasRelatedWork W1940287139 @default.
• W2011536532 hasRelatedWork W1974080842 @default.
• W2011536532 hasRelatedWork W2006401910 @default.
• W2011536532 hasRelatedWork W2007497099 @default.
• W2011536532 hasRelatedWork W2049827002 @default.
• W2011536532 hasRelatedWork W2056160047 @default.
• W2011536532 hasRelatedWork W2061957910 @default.
• W2011536532 hasRelatedWork W2069212435 @default.
• W2011536532 hasRelatedWork W2087523508 @default.
• W2011536532 hasRelatedWork W2090661925 @default.
• W2011536532 hasRelatedWork W2103349909 @default.
• W2011536532 hasRelatedWork W2108289808 @default.
• W2011536532 hasRelatedWork W2121080926 @default.
• W2011536532 hasRelatedWork W2130018355 @default.
• W2011536532 hasRelatedWork W2148162786 @default.
• W2011536532 hasRelatedWork W2150009282 @default.
• W2011536532 hasRelatedWork W2414329407 @default.
• W2011536532 hasRelatedWork W2531832737 @default.
• W2011536532 hasRelatedWork W2939282782 @default.
• W2011536532 hasRelatedWork W2995951946 @default.
• W2011536532 isParatext "false" @default.
• W2011536532 isRetracted "false" @default.

• next