FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2282018277> ?p ?o ?g. }

• W2282018277 abstract "Abstract We have identified and molecularly characterized a novel deletion in the beta-globin gene cluster that increases fetal hemoglobin (HbF) synthesis in a 24-year-old Laotian man who is heterozygous for this mutation. The patient is asymptomatic with a mild anemia, hypochromia, and microcytosis (Ht = 39%, MCH = 22.8 pg, MCV = 71 fl), normal levels of HbA2 (3.0%) and 11.5% HbF (G gamma A gamma ratio 60 to 40), with heterocellular distribution (52% F cells). Extensive restriction endonuclease mapping defined the 5′ breakpoint within the IVS II of the delta-globin gene, between positions 775 to 781 very similar to the 5′ breakpoint of the Sicilian delta beta-thalassemia. However, the 3′ breakpoint was localized between two Pst I sites 4.7 kb 3′ of the beta- globin gene, thus ending about 0.7 kb upstream from the 3′ breakpoint of the Sicilian delta beta-thalassemia. This results in a 12.5 kb deletion of DNA. It is of interest that the 5′ breakpoint of the deletion residues within an AT-rich region which has been proposed as a specific recognition signal for recombination events, while the 3′ breakpoint lies within a cluster of L1 repetitive sequences (formerly known as Kpn I family repeats). The presence of the 3′ breakpoints of several other deletions within this region of L1 repeats also suggests that such sequences might serve as hot spots for recombination and eventually lead to thalassemia deletions. The similarity of the 5′ and 3′ breakpoints of these delta beta-thalassemias underscores the putative regulatory role of the deleted and juxtaposed sequences on the expression of the gamma-globin genes in adult life." @default.
• W2282018277 created "2016-06-24" @default.
• W2282018277 creator A5014145598 @default.
• W2282018277 creator A5028975699 @default.
• W2282018277 creator A5086793596 @default.
• W2282018277 date "1988-09-01" @default.
• W2282018277 modified "2023-09-27" @default.
• W2282018277 title "Laotian (delta beta) degree-thalassemia: molecular characterization of a novel deletion associated with increased production of fetal hemoglobin" @default.
• W2282018277 cites W1476434754 @default.
• W2282018277 cites W1544862082 @default.
• W2282018277 cites W1552598005 @default.
• W2282018277 cites W1557021963 @default.
• W2282018277 cites W1572202323 @default.
• W2282018277 cites W196861196 @default.
• W2282018277 cites W1969447112 @default.
• W2282018277 cites W1972240128 @default.
• W2282018277 cites W1973490873 @default.
• W2282018277 cites W1986861204 @default.
• W2282018277 cites W1989814892 @default.
• W2282018277 cites W2005588048 @default.
• W2282018277 cites W2006918190 @default.
• W2282018277 cites W2007230764 @default.
• W2282018277 cites W2039320441 @default.
• W2282018277 cites W2041117540 @default.
• W2282018277 cites W2043187797 @default.
• W2282018277 cites W2053214386 @default.
• W2282018277 cites W2054684040 @default.
• W2282018277 cites W2055643269 @default.
• W2282018277 cites W2080346424 @default.
• W2282018277 cites W2081579852 @default.
• W2282018277 cites W2090345671 @default.
• W2282018277 cites W2097215101 @default.
• W2282018277 cites W2104451293 @default.
• W2282018277 cites W2105054597 @default.
• W2282018277 cites W2107982926 @default.
• W2282018277 cites W2116950695 @default.
• W2282018277 cites W2133561711 @default.
• W2282018277 cites W2165995046 @default.
• W2282018277 cites W2177214907 @default.
• W2282018277 cites W2300174601 @default.
• W2282018277 cites W2413645455 @default.
• W2282018277 cites W2419753891 @default.
• W2282018277 cites W2057520388 @default.
• W2282018277 doi "https://doi.org/10.1182/blood.v72.3.983.983" @default.
• W2282018277 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2458154" @default.
• W2282018277 hasPublicationYear "1988" @default.
• W2282018277 type Work @default.
• W2282018277 sameAs 2282018277 @default.
• W2282018277 citedByCount "10" @default.
• W2282018277 countsByYear W22820182772013 @default.
• W2282018277 countsByYear W22820182772022 @default.
• W2282018277 crossrefType "journal-article" @default.
• W2282018277 hasAuthorship W2282018277A5014145598 @default.
• W2282018277 hasAuthorship W2282018277A5028975699 @default.
• W2282018277 hasAuthorship W2282018277A5086793596 @default.
• W2282018277 hasBestOaLocation W22820182771 @default.
• W2282018277 hasConcept C104317684 @default.
• W2282018277 hasConcept C126322002 @default.
• W2282018277 hasConcept C138626823 @default.
• W2282018277 hasConcept C153911025 @default.
• W2282018277 hasConcept C172680121 @default.
• W2282018277 hasConcept C206936463 @default.
• W2282018277 hasConcept C2776317666 @default.
• W2282018277 hasConcept C2777417653 @default.
• W2282018277 hasConcept C2777799968 @default.
• W2282018277 hasConcept C2778248108 @default.
• W2282018277 hasConcept C2779234561 @default.
• W2282018277 hasConcept C2781400336 @default.
• W2282018277 hasConcept C54355233 @default.
• W2282018277 hasConcept C71924100 @default.
• W2282018277 hasConcept C7602840 @default.
• W2282018277 hasConcept C86803240 @default.
• W2282018277 hasConceptScore W2282018277C104317684 @default.
• W2282018277 hasConceptScore W2282018277C126322002 @default.
• W2282018277 hasConceptScore W2282018277C138626823 @default.
• W2282018277 hasConceptScore W2282018277C153911025 @default.
• W2282018277 hasConceptScore W2282018277C172680121 @default.
• W2282018277 hasConceptScore W2282018277C206936463 @default.
• W2282018277 hasConceptScore W2282018277C2776317666 @default.
• W2282018277 hasConceptScore W2282018277C2777417653 @default.
• W2282018277 hasConceptScore W2282018277C2777799968 @default.
• W2282018277 hasConceptScore W2282018277C2778248108 @default.
• W2282018277 hasConceptScore W2282018277C2779234561 @default.
• W2282018277 hasConceptScore W2282018277C2781400336 @default.
• W2282018277 hasConceptScore W2282018277C54355233 @default.
• W2282018277 hasConceptScore W2282018277C71924100 @default.
• W2282018277 hasConceptScore W2282018277C7602840 @default.
• W2282018277 hasConceptScore W2282018277C86803240 @default.
• W2282018277 hasLocation W22820182771 @default.
• W2282018277 hasOpenAccess W2282018277 @default.
• W2282018277 hasPrimaryLocation W22820182771 @default.
• W2282018277 hasRelatedWork W152028350 @default.
• W2282018277 hasRelatedWork W154894008 @default.
• W2282018277 hasRelatedWork W2005451355 @default.
• W2282018277 hasRelatedWork W2011417966 @default.
• W2282018277 hasRelatedWork W2026747188 @default.
• W2282018277 hasRelatedWork W2053214386 @default.
• W2282018277 hasRelatedWork W2053379561 @default.
• W2282018277 hasRelatedWork W2095340983 @default.
• W2282018277 hasRelatedWork W2100767183 @default.

• next