FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3018284688> ?p ?o ?g. }

• W3018284688 abstract "Primary immune deficiency diseases (PID) are a group of potentially serious disorders in which inherited defects in the immune system lead to increased infections. This paper explores the clinical characteristics and pathogenic gene mutation of PID.The clinical data, clinical manifestations, and gene sequencing results of seven children were analyzed.Among the seven children, six were male, and one was female, aged from 4 months to 13 years old. All of them had a history of repeated infection and pneumonia. High throughput sequencing (NGS) showed that the BTK gene of case 1 had c.1921c > t mutation; the BTK gene of case 2 had c.906-908del splice site mutation; the BTK gene of case 3 had c.718delg mutation; the cybb gene of case 4 had c.469c > t mutation; the IL2RG gene of case 5 had c.202g > A mutation; the STAT1 gene of case 6 had c.854a > G mutation; the case 7 had c.718delg mutation. There was c.1154c > t mutation in the STAT1 gene. Cases 1, 3, 6 and 7 were new mutations, and cases 2, 4, and 5 were inherited from mothers.In clinical cases of children with recurrent infection, the immunologic index is abnormal, so we need to be highly aware of the possibility of PID, and timely high-throughput sequencing is helpful for the diagnosis." @default.
• W3018284688 created "2020-05-01" @default.
• W3018284688 creator A5019483797 @default.
• W3018284688 creator A5020897665 @default.
• W3018284688 creator A5027475930 @default.
• W3018284688 creator A5037677450 @default.
• W3018284688 creator A5063936933 @default.
• W3018284688 creator A5071798264 @default.
• W3018284688 date "2020-04-01" @default.
• W3018284688 modified "2023-09-25" @default.
• W3018284688 title "Gene analysis of seven cases of primary immunodeficiency" @default.
• W3018284688 cites W1970463710 @default.
• W3018284688 cites W1987408160 @default.
• W3018284688 cites W1991307932 @default.
• W3018284688 cites W1995134513 @default.
• W3018284688 cites W2043455554 @default.
• W3018284688 cites W2050575553 @default.
• W3018284688 cites W2071547461 @default.
• W3018284688 cites W2107324202 @default.
• W3018284688 cites W2113197090 @default.
• W3018284688 cites W2119596885 @default.
• W3018284688 cites W2155476785 @default.
• W3018284688 cites W2256178893 @default.
• W3018284688 cites W2293120410 @default.
• W3018284688 cites W2412342079 @default.
• W3018284688 cites W2475147830 @default.
• W3018284688 cites W2490698663 @default.
• W3018284688 cites W2513691940 @default.
• W3018284688 cites W2547913572 @default.
• W3018284688 cites W2575083795 @default.
• W3018284688 cites W2590182519 @default.
• W3018284688 cites W2593100189 @default.
• W3018284688 cites W2598053835 @default.
• W3018284688 cites W2741619266 @default.
• W3018284688 cites W2759335351 @default.
• W3018284688 cites W2760663454 @default.
• W3018284688 cites W2766408561 @default.
• W3018284688 cites W2767366282 @default.
• W3018284688 cites W2771001721 @default.
• W3018284688 cites W2772114604 @default.
• W3018284688 cites W2792610506 @default.
• W3018284688 cites W2799696340 @default.
• W3018284688 cites W2904710841 @default.
• W3018284688 doi "https://doi.org/10.21037/tp.2020.03.07" @default.
• W3018284688 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7237979" @default.
• W3018284688 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32477911" @default.
• W3018284688 hasPublicationYear "2020" @default.
• W3018284688 type Work @default.
• W3018284688 sameAs 3018284688 @default.
• W3018284688 citedByCount "0" @default.
• W3018284688 crossrefType "journal-article" @default.
• W3018284688 hasAuthorship W3018284688A5019483797 @default.
• W3018284688 hasAuthorship W3018284688A5020897665 @default.
• W3018284688 hasAuthorship W3018284688A5027475930 @default.
• W3018284688 hasAuthorship W3018284688A5037677450 @default.
• W3018284688 hasAuthorship W3018284688A5063936933 @default.
• W3018284688 hasAuthorship W3018284688A5071798264 @default.
• W3018284688 hasBestOaLocation W30182846881 @default.
• W3018284688 hasConcept C104317684 @default.
• W3018284688 hasConcept C126322002 @default.
• W3018284688 hasConcept C170493617 @default.
• W3018284688 hasConcept C203014093 @default.
• W3018284688 hasConcept C2777607303 @default.
• W3018284688 hasConcept C2779019163 @default.
• W3018284688 hasConcept C2994225774 @default.
• W3018284688 hasConcept C42362537 @default.
• W3018284688 hasConcept C501734568 @default.
• W3018284688 hasConcept C54355233 @default.
• W3018284688 hasConcept C54458228 @default.
• W3018284688 hasConcept C62257209 @default.
• W3018284688 hasConcept C67705224 @default.
• W3018284688 hasConcept C71924100 @default.
• W3018284688 hasConcept C86803240 @default.
• W3018284688 hasConcept C8891405 @default.
• W3018284688 hasConcept C90059517 @default.
• W3018284688 hasConceptScore W3018284688C104317684 @default.
• W3018284688 hasConceptScore W3018284688C126322002 @default.
• W3018284688 hasConceptScore W3018284688C170493617 @default.
• W3018284688 hasConceptScore W3018284688C203014093 @default.
• W3018284688 hasConceptScore W3018284688C2777607303 @default.
• W3018284688 hasConceptScore W3018284688C2779019163 @default.
• W3018284688 hasConceptScore W3018284688C2994225774 @default.
• W3018284688 hasConceptScore W3018284688C42362537 @default.
• W3018284688 hasConceptScore W3018284688C501734568 @default.
• W3018284688 hasConceptScore W3018284688C54355233 @default.
• W3018284688 hasConceptScore W3018284688C54458228 @default.
• W3018284688 hasConceptScore W3018284688C62257209 @default.
• W3018284688 hasConceptScore W3018284688C67705224 @default.
• W3018284688 hasConceptScore W3018284688C71924100 @default.
• W3018284688 hasConceptScore W3018284688C86803240 @default.
• W3018284688 hasConceptScore W3018284688C8891405 @default.
• W3018284688 hasConceptScore W3018284688C90059517 @default.
• W3018284688 hasLocation W30182846881 @default.
• W3018284688 hasLocation W30182846882 @default.
• W3018284688 hasLocation W30182846883 @default.
• W3018284688 hasLocation W30182846884 @default.
• W3018284688 hasOpenAccess W3018284688 @default.
• W3018284688 hasPrimaryLocation W30182846881 @default.
• W3018284688 hasRelatedWork W10248111 @default.
• W3018284688 hasRelatedWork W11901449 @default.

• next