Matches in SemOpenAlex for { <https://semopenalex.org/work/W2564720652> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W2564720652 endingPage "850" @default.
- W2564720652 startingPage "847" @default.
- W2564720652 abstract "Objective To observe the clinical features and to identify γ-secretase gene mutations in a Chinese family with follicular occlusion triad (FOT).Methods Clinical evaluation was carried out in a family with FOT through field investigation.Peripheral blood samples were obtained from the family members and 100 unrelated healthy controls.DNA was extracted from the blood samples,and PCR was performed to amplify all the coding regions of PSEN1,PSENEN and NCSTN genes followed by DNA sequencing and comparative analysis.Results There were 14 members over 3 generations in this family,of whom,6 (4 males and 2 females) were affected by FOT.FOT was inherited in an autosomal dominant manner in this family.Clinical manifestations varied greatly among the 4 surviving affected members.DNA sequencing revealed a novel missense mutation,c.647A ＞ C (p.Q216P),in the exon 6 of NCSTN gene in the proband,which was cosegregated perfectly with affected,but not with unaffected,members in the family.The mutation was not found in any of the unrelated controls and had not been registered in the single nucleotide polymorphism (SNP) database in NCBI.Conclusions There is a novel heterozygous missense mutation,c.647A＞C in the exon 6 of NCSTN gene,which may be the molecular basis of pathogenesis of FOT in this family.Key words: Follicular occlusion triad; Pedigree; Skin manifestations; DNA mutational analysis" @default.
- W2564720652 created "2017-01-06" @default.
- W2564720652 creator A5016522860 @default.
- W2564720652 creator A5026871706 @default.
- W2564720652 creator A5048740840 @default.
- W2564720652 creator A5080322652 @default.
- W2564720652 date "2012-12-15" @default.
- W2564720652 modified "2023-09-27" @default.
- W2564720652 title "Follicular occlusion triad in a family: a clinical survey and mutational analysis" @default.
- W2564720652 doi "https://doi.org/10.3760/cma.j.issn.0412-4030.2012.12.003" @default.
- W2564720652 hasPublicationYear "2012" @default.
- W2564720652 type Work @default.
- W2564720652 sameAs 2564720652 @default.
- W2564720652 citedByCount "0" @default.
- W2564720652 crossrefType "journal-article" @default.
- W2564720652 hasAuthorship W2564720652A5016522860 @default.
- W2564720652 hasAuthorship W2564720652A5026871706 @default.
- W2564720652 hasAuthorship W2564720652A5048740840 @default.
- W2564720652 hasAuthorship W2564720652A5080322652 @default.
- W2564720652 hasConcept C104317684 @default.
- W2564720652 hasConcept C135763542 @default.
- W2564720652 hasConcept C139275648 @default.
- W2564720652 hasConcept C142870003 @default.
- W2564720652 hasConcept C153209595 @default.
- W2564720652 hasConcept C188997412 @default.
- W2564720652 hasConcept C197754878 @default.
- W2564720652 hasConcept C23085057 @default.
- W2564720652 hasConcept C36823959 @default.
- W2564720652 hasConcept C501734568 @default.
- W2564720652 hasConcept C54355233 @default.
- W2564720652 hasConcept C75563809 @default.
- W2564720652 hasConcept C86803240 @default.
- W2564720652 hasConceptScore W2564720652C104317684 @default.
- W2564720652 hasConceptScore W2564720652C135763542 @default.
- W2564720652 hasConceptScore W2564720652C139275648 @default.
- W2564720652 hasConceptScore W2564720652C142870003 @default.
- W2564720652 hasConceptScore W2564720652C153209595 @default.
- W2564720652 hasConceptScore W2564720652C188997412 @default.
- W2564720652 hasConceptScore W2564720652C197754878 @default.
- W2564720652 hasConceptScore W2564720652C23085057 @default.
- W2564720652 hasConceptScore W2564720652C36823959 @default.
- W2564720652 hasConceptScore W2564720652C501734568 @default.
- W2564720652 hasConceptScore W2564720652C54355233 @default.
- W2564720652 hasConceptScore W2564720652C75563809 @default.
- W2564720652 hasConceptScore W2564720652C86803240 @default.
- W2564720652 hasIssue "12" @default.
- W2564720652 hasLocation W25647206521 @default.
- W2564720652 hasOpenAccess W2564720652 @default.
- W2564720652 hasPrimaryLocation W25647206521 @default.
- W2564720652 hasRelatedWork W1612653388 @default.
- W2564720652 hasRelatedWork W196978574 @default.
- W2564720652 hasRelatedWork W2101602320 @default.
- W2564720652 hasRelatedWork W2103579643 @default.
- W2564720652 hasRelatedWork W2276426024 @default.
- W2564720652 hasRelatedWork W2352729582 @default.
- W2564720652 hasRelatedWork W2399166667 @default.
- W2564720652 hasRelatedWork W2406835088 @default.
- W2564720652 hasRelatedWork W2419661787 @default.
- W2564720652 hasRelatedWork W2472606398 @default.
- W2564720652 hasRelatedWork W2883107980 @default.
- W2564720652 hasRelatedWork W3030037430 @default.
- W2564720652 hasRelatedWork W3030139831 @default.
- W2564720652 hasRelatedWork W3030909799 @default.
- W2564720652 hasRelatedWork W3031343067 @default.
- W2564720652 hasRelatedWork W3031586079 @default.
- W2564720652 hasRelatedWork W3031947091 @default.
- W2564720652 hasRelatedWork W3032044879 @default.
- W2564720652 hasRelatedWork W3205270793 @default.
- W2564720652 hasRelatedWork W2785838729 @default.
- W2564720652 hasVolume "45" @default.
- W2564720652 isParatext "false" @default.
- W2564720652 isRetracted "false" @default.
- W2564720652 magId "2564720652" @default.
- W2564720652 workType "article" @default.