Matches in SemOpenAlex for { <https://semopenalex.org/work/W2042607698> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2042607698 endingPage "E1070" @default.
- W2042607698 startingPage "E1058" @default.
- W2042607698 abstract "The autosomal recessive Zellweger syndrome spectrum (ZSS) disorders comprise a main subgroup of the peroxisome biogenesis disorders. The ZSS disorders can be caused by mutations in any of 12 different currently identified PEX genes resulting in severe, often lethal, multi-systemic disorders. Defects in the PEX6 gene are the second most common cause for ZSS disorders. The encoded protein PEX6 belongs to the AAA ATPase family and contains two AAA cassettes and an AAA protein family signature. The PEX6 gene consists of 17 exons and previously mutations in the PEX6 gene were found to be scattered over all exons. We developed a post-PCR high-resolution melting (HRM) curve assay to scan the PEX6 gene for potential sequence variations followed by selective sequencing to identify these. We analyzed the PEX6 genes of 75 patients assigned to the PEX6 complementation group. We identified a total of 77 different mutations of which 47 mutations have not been reported previously, and 14 polymorphic variants." @default.
- W2042607698 created "2016-06-24" @default.
- W2042607698 creator A5040743356 @default.
- W2042607698 creator A5057865344 @default.
- W2042607698 creator A5061810798 @default.
- W2042607698 creator A5084243963 @default.
- W2042607698 date "2010-01-01" @default.
- W2042607698 modified "2023-09-26" @default.
- W2042607698 title "Spectrum of<i>PEX6</i>mutations in Zellweger syndrome spectrum patients" @default.
- W2042607698 doi "https://doi.org/10.1002/humu.21153" @default.
- W2042607698 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19877282" @default.
- W2042607698 hasPublicationYear "2010" @default.
- W2042607698 type Work @default.
- W2042607698 sameAs 2042607698 @default.
- W2042607698 citedByCount "28" @default.
- W2042607698 countsByYear W20426076982012 @default.
- W2042607698 countsByYear W20426076982014 @default.
- W2042607698 countsByYear W20426076982015 @default.
- W2042607698 countsByYear W20426076982016 @default.
- W2042607698 countsByYear W20426076982017 @default.
- W2042607698 countsByYear W20426076982018 @default.
- W2042607698 countsByYear W20426076982019 @default.
- W2042607698 countsByYear W20426076982020 @default.
- W2042607698 countsByYear W20426076982021 @default.
- W2042607698 crossrefType "journal-article" @default.
- W2042607698 hasAuthorship W2042607698A5040743356 @default.
- W2042607698 hasAuthorship W2042607698A5057865344 @default.
- W2042607698 hasAuthorship W2042607698A5061810798 @default.
- W2042607698 hasAuthorship W2042607698A5084243963 @default.
- W2042607698 hasBestOaLocation W20426076981 @default.
- W2042607698 hasConcept C104317684 @default.
- W2042607698 hasConcept C127078168 @default.
- W2042607698 hasConcept C127716648 @default.
- W2042607698 hasConcept C153911025 @default.
- W2042607698 hasConcept C188082640 @default.
- W2042607698 hasConcept C2777485865 @default.
- W2042607698 hasConcept C36823959 @default.
- W2042607698 hasConcept C501734568 @default.
- W2042607698 hasConcept C54355233 @default.
- W2042607698 hasConcept C86803240 @default.
- W2042607698 hasConceptScore W2042607698C104317684 @default.
- W2042607698 hasConceptScore W2042607698C127078168 @default.
- W2042607698 hasConceptScore W2042607698C127716648 @default.
- W2042607698 hasConceptScore W2042607698C153911025 @default.
- W2042607698 hasConceptScore W2042607698C188082640 @default.
- W2042607698 hasConceptScore W2042607698C2777485865 @default.
- W2042607698 hasConceptScore W2042607698C36823959 @default.
- W2042607698 hasConceptScore W2042607698C501734568 @default.
- W2042607698 hasConceptScore W2042607698C54355233 @default.
- W2042607698 hasConceptScore W2042607698C86803240 @default.
- W2042607698 hasIssue "1" @default.
- W2042607698 hasLocation W20426076981 @default.
- W2042607698 hasLocation W20426076982 @default.
- W2042607698 hasOpenAccess W2042607698 @default.
- W2042607698 hasPrimaryLocation W20426076981 @default.
- W2042607698 hasRelatedWork W2015388398 @default.
- W2042607698 hasRelatedWork W2025851750 @default.
- W2042607698 hasRelatedWork W2039352533 @default.
- W2042607698 hasRelatedWork W2060169551 @default.
- W2042607698 hasRelatedWork W2068932327 @default.
- W2042607698 hasRelatedWork W2130336409 @default.
- W2042607698 hasRelatedWork W2168467210 @default.
- W2042607698 hasRelatedWork W2340299574 @default.
- W2042607698 hasRelatedWork W2417766600 @default.
- W2042607698 hasRelatedWork W3092216457 @default.
- W2042607698 hasVolume "31" @default.
- W2042607698 isParatext "false" @default.
- W2042607698 isRetracted "false" @default.
- W2042607698 magId "2042607698" @default.
- W2042607698 workType "article" @default.