Matches in SemOpenAlex for { <https://semopenalex.org/work/W4224229831> ?p ?o ?g. }
Showing items 1 to 55 of
55
with 100 items per page.
- W4224229831 endingPage "416" @default.
- W4224229831 startingPage "413" @default.
- W4224229831 abstract "To analyze the clinical and genetic features of a patient with mevalonate kinase deficiency (MKD).Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing.The proband was found to harbor compound heterozygous variants of the MVK gene, including a c.248C>T (p.Phe83Cys) variant derived from his father and a c.971C>T (p.Ala324Val) variant from his mother. Based on the guidelines of the American College of Medical Genetics and Genomics, both variations were predicted to be likely pathogenic (PM1 + PM2 + PM3 + PP3).The compound heterozygous variants of the MVK gene probably underlay the MKD in the proband. Above findings have enriched the mutational spectrum of the MVK gene." @default.
- W4224229831 created "2022-04-26" @default.
- W4224229831 creator A5020902466 @default.
- W4224229831 creator A5021895615 @default.
- W4224229831 creator A5046974478 @default.
- W4224229831 date "2022-04-10" @default.
- W4224229831 modified "2023-09-27" @default.
- W4224229831 title "[Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency]." @default.
- W4224229831 doi "https://doi.org/10.3760/cma.j.cn511374-20210110-00025" @default.
- W4224229831 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35446978" @default.
- W4224229831 hasPublicationYear "2022" @default.
- W4224229831 type Work @default.
- W4224229831 citedByCount "0" @default.
- W4224229831 crossrefType "journal-article" @default.
- W4224229831 hasAuthorship W4224229831A5020902466 @default.
- W4224229831 hasAuthorship W4224229831A5021895615 @default.
- W4224229831 hasAuthorship W4224229831A5046974478 @default.
- W4224229831 hasConcept C104317684 @default.
- W4224229831 hasConcept C12125453 @default.
- W4224229831 hasConcept C16671776 @default.
- W4224229831 hasConcept C188997412 @default.
- W4224229831 hasConcept C501734568 @default.
- W4224229831 hasConcept C51679486 @default.
- W4224229831 hasConcept C54355233 @default.
- W4224229831 hasConcept C76818968 @default.
- W4224229831 hasConcept C86803240 @default.
- W4224229831 hasConceptScore W4224229831C104317684 @default.
- W4224229831 hasConceptScore W4224229831C12125453 @default.
- W4224229831 hasConceptScore W4224229831C16671776 @default.
- W4224229831 hasConceptScore W4224229831C188997412 @default.
- W4224229831 hasConceptScore W4224229831C501734568 @default.
- W4224229831 hasConceptScore W4224229831C51679486 @default.
- W4224229831 hasConceptScore W4224229831C54355233 @default.
- W4224229831 hasConceptScore W4224229831C76818968 @default.
- W4224229831 hasConceptScore W4224229831C86803240 @default.
- W4224229831 hasIssue "4" @default.
- W4224229831 hasLocation W42242298311 @default.
- W4224229831 hasOpenAccess W4224229831 @default.
- W4224229831 hasPrimaryLocation W42242298311 @default.
- W4224229831 hasRelatedWork W11770659 @default.
- W4224229831 hasRelatedWork W14429797 @default.
- W4224229831 hasRelatedWork W20693675 @default.
- W4224229831 hasRelatedWork W21482950 @default.
- W4224229831 hasRelatedWork W2287878 @default.
- W4224229831 hasRelatedWork W33589236 @default.
- W4224229831 hasRelatedWork W37676881 @default.
- W4224229831 hasRelatedWork W48767783 @default.
- W4224229831 hasRelatedWork W45679018 @default.
- W4224229831 hasRelatedWork W46773860 @default.
- W4224229831 hasVolume "39" @default.
- W4224229831 isParatext "false" @default.
- W4224229831 isRetracted "false" @default.
- W4224229831 workType "article" @default.