Matches in SemOpenAlex for { <https://semopenalex.org/work/W4384153604> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W4384153604 abstract "Thalassemia is a common inherited hemoglobin disorder caused by a deficiency of one or more globin subunits. Substitution variants and deletions in the HBB gene are the major causes of β-thalassemia, of which large fragment deletions are rare and difficult to be detected by conventional polymerase chain reaction (PCR)-based methods.In this study, we reported a 26-year-old Han Chinese man, whose routine blood parameters were found to be abnormal. Hemoglobin testing was performed on the proband and his family members, of whom only the proband's mother had normal parameters. The comprehensive analysis of thalassemia alleles (CATSA, a long-read sequencing-based approach) was performed to identify the causative variants. We finally found a novel 10.8-kb deletion including the β-globin (HBB) gene (Chr11:5216601-5227407, GRch38/hg38) of the proband and his father and brother, which were consistent with their hemoglobin testing results. The copy number and exact breakpoints of the deletion were confirmed by multiplex ligation-dependent probe amplification (MLPA) and gap-polymerase chain reaction (Gap-PCR) as well as Sanger sequencing, respectively.With this novel large deletion found in the HBB gene in China, we expand the genotype spectrum of β-thalassemia and show the advantages of long-read sequencing (LRS) for comprehensive and precise detection of thalassemia variants." @default.
- W4384153604 created "2023-07-14" @default.
- W4384153604 creator A5006952025 @default.
- W4384153604 creator A5010340850 @default.
- W4384153604 creator A5028260055 @default.
- W4384153604 creator A5028804401 @default.
- W4384153604 creator A5047157230 @default.
- W4384153604 creator A5067833187 @default.
- W4384153604 creator A5077779346 @default.
- W4384153604 date "2023-07-13" @default.
- W4384153604 modified "2023-09-26" @default.
- W4384153604 title "Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results" @default.
- W4384153604 cites W1988241536 @default.
- W4384153604 cites W2004053059 @default.
- W4384153604 cites W2051978340 @default.
- W4384153604 cites W2060721018 @default.
- W4384153604 cites W2137759177 @default.
- W4384153604 cites W2400990757 @default.
- W4384153604 cites W2542179038 @default.
- W4384153604 cites W2654493239 @default.
- W4384153604 cites W2747512806 @default.
- W4384153604 cites W2788282141 @default.
- W4384153604 cites W2788407440 @default.
- W4384153604 cites W3012495857 @default.
- W4384153604 cites W3031424517 @default.
- W4384153604 cites W3184395124 @default.
- W4384153604 cites W4211119300 @default.
- W4384153604 cites W4211214940 @default.
- W4384153604 cites W4220661084 @default.
- W4384153604 cites W4317780781 @default.
- W4384153604 doi "https://doi.org/10.3389/fmed.2023.1192279" @default.
- W4384153604 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37521358" @default.
- W4384153604 hasPublicationYear "2023" @default.
- W4384153604 type Work @default.
- W4384153604 citedByCount "0" @default.
- W4384153604 crossrefType "journal-article" @default.
- W4384153604 hasAuthorship W4384153604A5006952025 @default.
- W4384153604 hasAuthorship W4384153604A5010340850 @default.
- W4384153604 hasAuthorship W4384153604A5028260055 @default.
- W4384153604 hasAuthorship W4384153604A5028804401 @default.
- W4384153604 hasAuthorship W4384153604A5047157230 @default.
- W4384153604 hasAuthorship W4384153604A5067833187 @default.
- W4384153604 hasAuthorship W4384153604A5077779346 @default.
- W4384153604 hasBestOaLocation W43841536041 @default.
- W4384153604 hasConcept C104317684 @default.
- W4384153604 hasConcept C120599132 @default.
- W4384153604 hasConcept C12125453 @default.
- W4384153604 hasConcept C135763542 @default.
- W4384153604 hasConcept C153911025 @default.
- W4384153604 hasConcept C180754005 @default.
- W4384153604 hasConcept C188997412 @default.
- W4384153604 hasConcept C206936463 @default.
- W4384153604 hasConcept C2777799968 @default.
- W4384153604 hasConcept C30481170 @default.
- W4384153604 hasConcept C36823959 @default.
- W4384153604 hasConcept C49105822 @default.
- W4384153604 hasConcept C501734568 @default.
- W4384153604 hasConcept C51679486 @default.
- W4384153604 hasConcept C54355233 @default.
- W4384153604 hasConcept C76818968 @default.
- W4384153604 hasConcept C86803240 @default.
- W4384153604 hasConceptScore W4384153604C104317684 @default.
- W4384153604 hasConceptScore W4384153604C120599132 @default.
- W4384153604 hasConceptScore W4384153604C12125453 @default.
- W4384153604 hasConceptScore W4384153604C135763542 @default.
- W4384153604 hasConceptScore W4384153604C153911025 @default.
- W4384153604 hasConceptScore W4384153604C180754005 @default.
- W4384153604 hasConceptScore W4384153604C188997412 @default.
- W4384153604 hasConceptScore W4384153604C206936463 @default.
- W4384153604 hasConceptScore W4384153604C2777799968 @default.
- W4384153604 hasConceptScore W4384153604C30481170 @default.
- W4384153604 hasConceptScore W4384153604C36823959 @default.
- W4384153604 hasConceptScore W4384153604C49105822 @default.
- W4384153604 hasConceptScore W4384153604C501734568 @default.
- W4384153604 hasConceptScore W4384153604C51679486 @default.
- W4384153604 hasConceptScore W4384153604C54355233 @default.
- W4384153604 hasConceptScore W4384153604C76818968 @default.
- W4384153604 hasConceptScore W4384153604C86803240 @default.
- W4384153604 hasLocation W43841536041 @default.
- W4384153604 hasLocation W43841536042 @default.
- W4384153604 hasLocation W43841536043 @default.
- W4384153604 hasOpenAccess W4384153604 @default.
- W4384153604 hasPrimaryLocation W43841536041 @default.
- W4384153604 hasRelatedWork W2510746264 @default.
- W4384153604 hasRelatedWork W2907407121 @default.
- W4384153604 hasRelatedWork W2911833153 @default.
- W4384153604 hasRelatedWork W3024115942 @default.
- W4384153604 hasRelatedWork W3024168541 @default.
- W4384153604 hasRelatedWork W3025093515 @default.
- W4384153604 hasRelatedWork W3025205367 @default.
- W4384153604 hasRelatedWork W3040225574 @default.
- W4384153604 hasRelatedWork W4300690912 @default.
- W4384153604 hasRelatedWork W4313594566 @default.
- W4384153604 hasVolume "10" @default.
- W4384153604 isParatext "false" @default.
- W4384153604 isRetracted "false" @default.
- W4384153604 workType "article" @default.