FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1978015128> ?p ?o ?g. }

• W1978015128 endingPage "118" @default.
• W1978015128 startingPage "114" @default.
• W1978015128 abstract "Wilson disease (WD) is an autosomal recessive disorder, caused by defects in copper-transporting P-type adenosine triphosphatase (ATPase) encoded by the ATP7B gene, resulting in the deposition of copper in the liver and brain with significant disability or death if left untreated. An available regimen of treatment gives hope to those predisposed to the disease if diagnosed early. The objective of this study was to determine the frequency of the most common European mutation (p.H1069Q) in Egyptian children with WD, in addition to screening for previously reported mutations in the Egyptian patients in our selected group.Direct DNA sequencing was applied to exons (13, 14, 18, and 19) of the ATP7B gene for 19 patients previously diagnosed with WD. Then DNA sequencing and pedigree analysis were performed in the families of the patients showing variations in their results for the purpose of family screening and carrier detection. Six out of 19 patients were studied with their families (three families).We identified five variants of which two were novel among the studied patients. One of the novel variants was synonymous substitution (p.A1074A) in 16% of patients and the other was predicted to be missense disease-causing mutations (p.T1076I) in 16% of patients, and three previously published mutations p.H1069Q were detected in 5% of patients, p.P1273Q in 10% of patients, and a silent variant p.A1003A in 26% of patients.Screening for the two exons 14 and 18 of the ATP7B gene is important in Egyptian patients especially in suspected patients without hepatic manifestations." @default.
• W1978015128 created "2016-06-24" @default.
• W1978015128 creator A5006201198 @default.
• W1978015128 creator A5021239068 @default.
• W1978015128 creator A5033712283 @default.
• W1978015128 creator A5036826753 @default.
• W1978015128 creator A5052058196 @default.
• W1978015128 creator A5067449128 @default.
• W1978015128 creator A5067904630 @default.
• W1978015128 creator A5070903610 @default.
• W1978015128 creator A5081359181 @default.
• W1978015128 creator A5085210720 @default.
• W1978015128 creator A5086051787 @default.
• W1978015128 creator A5087060620 @default.
• W1978015128 date "2014-09-01" @default.
• W1978015128 modified "2023-09-26" @default.
• W1978015128 title "Gene mutations in Wilson disease in Egyptian children: Report on two novel mutations" @default.
• W1978015128 cites W1519459752 @default.
• W1978015128 cites W1881009043 @default.
• W1978015128 cites W1982236424 @default.
• W1978015128 cites W2002023508 @default.
• W1978015128 cites W2020620545 @default.
• W1978015128 cites W2023051967 @default.
• W1978015128 cites W2024544489 @default.
• W1978015128 cites W2028197440 @default.
• W1978015128 cites W2031579849 @default.
• W1978015128 cites W2033319945 @default.
• W1978015128 cites W2038970734 @default.
• W1978015128 cites W2045623736 @default.
• W1978015128 cites W2059137763 @default.
• W1978015128 cites W2068676400 @default.
• W1978015128 cites W2072603644 @default.
• W1978015128 cites W2084803199 @default.
• W1978015128 cites W2089738642 @default.
• W1978015128 cites W2096791516 @default.
• W1978015128 cites W2101118205 @default.
• W1978015128 cites W2116087540 @default.
• W1978015128 cites W2130074105 @default.
• W1978015128 cites W2134359770 @default.
• W1978015128 cites W2143190548 @default.
• W1978015128 cites W4235219173 @default.
• W1978015128 doi "https://doi.org/10.1016/j.ajg.2014.10.005" @default.
• W1978015128 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25465132" @default.
• W1978015128 hasPublicationYear "2014" @default.
• W1978015128 type Work @default.
• W1978015128 sameAs 1978015128 @default.
• W1978015128 citedByCount "7" @default.
• W1978015128 countsByYear W19780151282016 @default.
• W1978015128 countsByYear W19780151282017 @default.
• W1978015128 countsByYear W19780151282019 @default.
• W1978015128 countsByYear W19780151282021 @default.
• W1978015128 countsByYear W19780151282022 @default.
• W1978015128 crossrefType "journal-article" @default.
• W1978015128 hasAuthorship W1978015128A5006201198 @default.
• W1978015128 hasAuthorship W1978015128A5021239068 @default.
• W1978015128 hasAuthorship W1978015128A5033712283 @default.
• W1978015128 hasAuthorship W1978015128A5036826753 @default.
• W1978015128 hasAuthorship W1978015128A5052058196 @default.
• W1978015128 hasAuthorship W1978015128A5067449128 @default.
• W1978015128 hasAuthorship W1978015128A5067904630 @default.
• W1978015128 hasAuthorship W1978015128A5070903610 @default.
• W1978015128 hasAuthorship W1978015128A5081359181 @default.
• W1978015128 hasAuthorship W1978015128A5085210720 @default.
• W1978015128 hasAuthorship W1978015128A5086051787 @default.
• W1978015128 hasAuthorship W1978015128A5087060620 @default.
• W1978015128 hasConcept C104317684 @default.
• W1978015128 hasConcept C12125453 @default.
• W1978015128 hasConcept C126322002 @default.
• W1978015128 hasConcept C2776231509 @default.
• W1978015128 hasConcept C2779134260 @default.
• W1978015128 hasConcept C2994225774 @default.
• W1978015128 hasConcept C36823959 @default.
• W1978015128 hasConcept C501734568 @default.
• W1978015128 hasConcept C54355233 @default.
• W1978015128 hasConcept C71924100 @default.
• W1978015128 hasConcept C75563809 @default.
• W1978015128 hasConcept C86803240 @default.
• W1978015128 hasConcept C90924648 @default.
• W1978015128 hasConceptScore W1978015128C104317684 @default.
• W1978015128 hasConceptScore W1978015128C12125453 @default.
• W1978015128 hasConceptScore W1978015128C126322002 @default.
• W1978015128 hasConceptScore W1978015128C2776231509 @default.
• W1978015128 hasConceptScore W1978015128C2779134260 @default.
• W1978015128 hasConceptScore W1978015128C2994225774 @default.
• W1978015128 hasConceptScore W1978015128C36823959 @default.
• W1978015128 hasConceptScore W1978015128C501734568 @default.
• W1978015128 hasConceptScore W1978015128C54355233 @default.
• W1978015128 hasConceptScore W1978015128C71924100 @default.
• W1978015128 hasConceptScore W1978015128C75563809 @default.
• W1978015128 hasConceptScore W1978015128C86803240 @default.
• W1978015128 hasConceptScore W1978015128C90924648 @default.
• W1978015128 hasIssue "3-4" @default.
• W1978015128 hasLocation W19780151281 @default.
• W1978015128 hasLocation W19780151282 @default.
• W1978015128 hasOpenAccess W1978015128 @default.
• W1978015128 hasPrimaryLocation W19780151281 @default.
• W1978015128 hasRelatedWork W2143652908 @default.
• W1978015128 hasRelatedWork W2258430434 @default.

• next