Matches in SemOpenAlex for { <https://semopenalex.org/work/W4224264266> ?p ?o ?g. }
Showing items 1 to 67 of
67
with 100 items per page.
- W4224264266 endingPage "373" @default.
- W4224264266 startingPage "370" @default.
- W4224264266 abstract "To explore the genetic basis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome.Whole exome sequencing and Sanger sequencing were carried out to detect potential pathogenic variants associated with the syndrome. The function of candidate variant was verified by Western blotting.A novel homozygous variant, c.1222delG of the DYM gene was detected in the two affected siblings, for which both parents were heterozygous carriers. The variant has caused replacement of Asp by Met at amino acid 408 and generate a premature stop codon p.Asp408Metfs*10. Western blotting confirmed that the variant can result in degradation of the mutant DYM protein, suggesting that it is a loss of function variant.The homozygous c.1222delG frameshift variant of the DYM probably underlay the Dyggve-Melchior-Clausen syndrome in the two affected siblings. Above findings has enabled clinical diagnosis and genetic counseling for the family." @default.
- W4224264266 created "2022-04-26" @default.
- W4224264266 creator A5027943580 @default.
- W4224264266 creator A5048826252 @default.
- W4224264266 creator A5053484154 @default.
- W4224264266 creator A5055500085 @default.
- W4224264266 creator A5058654389 @default.
- W4224264266 creator A5081036659 @default.
- W4224264266 date "2022-04-10" @default.
- W4224264266 modified "2023-10-16" @default.
- W4224264266 title "[Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene]." @default.
- W4224264266 doi "https://doi.org/10.3760/cma.j.cn511374-20210127-00084" @default.
- W4224264266 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35446968" @default.
- W4224264266 hasPublicationYear "2022" @default.
- W4224264266 type Work @default.
- W4224264266 citedByCount "0" @default.
- W4224264266 crossrefType "journal-article" @default.
- W4224264266 hasAuthorship W4224264266A5027943580 @default.
- W4224264266 hasAuthorship W4224264266A5048826252 @default.
- W4224264266 hasAuthorship W4224264266A5053484154 @default.
- W4224264266 hasAuthorship W4224264266A5055500085 @default.
- W4224264266 hasAuthorship W4224264266A5058654389 @default.
- W4224264266 hasAuthorship W4224264266A5081036659 @default.
- W4224264266 hasConcept C104317684 @default.
- W4224264266 hasConcept C12125453 @default.
- W4224264266 hasConcept C153911025 @default.
- W4224264266 hasConcept C16671776 @default.
- W4224264266 hasConcept C188997412 @default.
- W4224264266 hasConcept C23085057 @default.
- W4224264266 hasConcept C29906990 @default.
- W4224264266 hasConcept C501734568 @default.
- W4224264266 hasConcept C54355233 @default.
- W4224264266 hasConcept C76818968 @default.
- W4224264266 hasConcept C85265743 @default.
- W4224264266 hasConcept C86803240 @default.
- W4224264266 hasConceptScore W4224264266C104317684 @default.
- W4224264266 hasConceptScore W4224264266C12125453 @default.
- W4224264266 hasConceptScore W4224264266C153911025 @default.
- W4224264266 hasConceptScore W4224264266C16671776 @default.
- W4224264266 hasConceptScore W4224264266C188997412 @default.
- W4224264266 hasConceptScore W4224264266C23085057 @default.
- W4224264266 hasConceptScore W4224264266C29906990 @default.
- W4224264266 hasConceptScore W4224264266C501734568 @default.
- W4224264266 hasConceptScore W4224264266C54355233 @default.
- W4224264266 hasConceptScore W4224264266C76818968 @default.
- W4224264266 hasConceptScore W4224264266C85265743 @default.
- W4224264266 hasConceptScore W4224264266C86803240 @default.
- W4224264266 hasIssue "4" @default.
- W4224264266 hasLocation W42242642661 @default.
- W4224264266 hasOpenAccess W4224264266 @default.
- W4224264266 hasPrimaryLocation W42242642661 @default.
- W4224264266 hasRelatedWork W11770659 @default.
- W4224264266 hasRelatedWork W14429797 @default.
- W4224264266 hasRelatedWork W18871356 @default.
- W4224264266 hasRelatedWork W21482950 @default.
- W4224264266 hasRelatedWork W2287878 @default.
- W4224264266 hasRelatedWork W33589236 @default.
- W4224264266 hasRelatedWork W37289312 @default.
- W4224264266 hasRelatedWork W37676881 @default.
- W4224264266 hasRelatedWork W8404657 @default.
- W4224264266 hasRelatedWork W45679018 @default.
- W4224264266 hasVolume "39" @default.
- W4224264266 isParatext "false" @default.
- W4224264266 isRetracted "false" @default.
- W4224264266 workType "article" @default.