Matches in SemOpenAlex for { <https://semopenalex.org/work/W2044616520> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W2044616520 endingPage "31" @default.
- W2044616520 startingPage "26" @default.
- W2044616520 abstract "Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, deafness, diabetes mellitus and progressive extrapyramidal defects. Mutations in the gene C2orf37 are the cause of Woodhouse-Sakati syndrome. In the present study, a four-generation consanguineous family with clinical manifestations of WSS was ascertained from a remote region of Pakistan. Linkage in the family was tested using microsatellite markers linked to several genes involved in producing WSS related phenotypes. Linkage in the family was established to the gene C2orf37, mapped on chromosome 2q22.3-2q35. DNA sequence analysis revealed a novel splice site mutation involving a homozygous G→A transition in the splice donor site of intron 3 (c.321+1G>A) of C2orf37. This study presents a first report of Woodhouse-Sakati syndrome identified in Pakistani population." @default.
- W2044616520 created "2016-06-24" @default.
- W2044616520 creator A5027359070 @default.
- W2044616520 creator A5037509365 @default.
- W2044616520 creator A5042200095 @default.
- W2044616520 creator A5044165610 @default.
- W2044616520 creator A5071054441 @default.
- W2044616520 date "2011-12-01" @default.
- W2044616520 modified "2023-10-02" @default.
- W2044616520 title "A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin" @default.
- W2044616520 cites W1983954245 @default.
- W2044616520 cites W1984508337 @default.
- W2044616520 cites W1999130532 @default.
- W2044616520 cites W2002373110 @default.
- W2044616520 cites W2011640110 @default.
- W2044616520 cites W2028431091 @default.
- W2044616520 cites W2042349268 @default.
- W2044616520 cites W2069202066 @default.
- W2044616520 cites W2109490493 @default.
- W2044616520 cites W2131815916 @default.
- W2044616520 cites W2141593725 @default.
- W2044616520 cites W2141818196 @default.
- W2044616520 cites W2158846553 @default.
- W2044616520 cites W2169652087 @default.
- W2044616520 doi "https://doi.org/10.1016/j.gene.2011.09.002" @default.
- W2044616520 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21963443" @default.
- W2044616520 hasPublicationYear "2011" @default.
- W2044616520 type Work @default.
- W2044616520 sameAs 2044616520 @default.
- W2044616520 citedByCount "23" @default.
- W2044616520 countsByYear W20446165202013 @default.
- W2044616520 countsByYear W20446165202014 @default.
- W2044616520 countsByYear W20446165202015 @default.
- W2044616520 countsByYear W20446165202016 @default.
- W2044616520 countsByYear W20446165202018 @default.
- W2044616520 countsByYear W20446165202019 @default.
- W2044616520 countsByYear W20446165202020 @default.
- W2044616520 countsByYear W20446165202021 @default.
- W2044616520 countsByYear W20446165202022 @default.
- W2044616520 countsByYear W20446165202023 @default.
- W2044616520 crossrefType "journal-article" @default.
- W2044616520 hasAuthorship W2044616520A5027359070 @default.
- W2044616520 hasAuthorship W2044616520A5037509365 @default.
- W2044616520 hasAuthorship W2044616520A5042200095 @default.
- W2044616520 hasAuthorship W2044616520A5044165610 @default.
- W2044616520 hasAuthorship W2044616520A5071054441 @default.
- W2044616520 hasConcept C104317684 @default.
- W2044616520 hasConcept C130895681 @default.
- W2044616520 hasConcept C142870003 @default.
- W2044616520 hasConcept C16671776 @default.
- W2044616520 hasConcept C180754005 @default.
- W2044616520 hasConcept C501734568 @default.
- W2044616520 hasConcept C54355233 @default.
- W2044616520 hasConcept C54458228 @default.
- W2044616520 hasConcept C61320498 @default.
- W2044616520 hasConcept C62257209 @default.
- W2044616520 hasConcept C67705224 @default.
- W2044616520 hasConcept C86803240 @default.
- W2044616520 hasConcept C94671646 @default.
- W2044616520 hasConceptScore W2044616520C104317684 @default.
- W2044616520 hasConceptScore W2044616520C130895681 @default.
- W2044616520 hasConceptScore W2044616520C142870003 @default.
- W2044616520 hasConceptScore W2044616520C16671776 @default.
- W2044616520 hasConceptScore W2044616520C180754005 @default.
- W2044616520 hasConceptScore W2044616520C501734568 @default.
- W2044616520 hasConceptScore W2044616520C54355233 @default.
- W2044616520 hasConceptScore W2044616520C54458228 @default.
- W2044616520 hasConceptScore W2044616520C61320498 @default.
- W2044616520 hasConceptScore W2044616520C62257209 @default.
- W2044616520 hasConceptScore W2044616520C67705224 @default.
- W2044616520 hasConceptScore W2044616520C86803240 @default.
- W2044616520 hasConceptScore W2044616520C94671646 @default.
- W2044616520 hasIssue "1-2" @default.
- W2044616520 hasLocation W20446165201 @default.
- W2044616520 hasLocation W20446165202 @default.
- W2044616520 hasOpenAccess W2044616520 @default.
- W2044616520 hasPrimaryLocation W20446165201 @default.
- W2044616520 hasRelatedWork W1851998043 @default.
- W2044616520 hasRelatedWork W1978020758 @default.
- W2044616520 hasRelatedWork W1979908459 @default.
- W2044616520 hasRelatedWork W2044616520 @default.
- W2044616520 hasRelatedWork W206040608 @default.
- W2044616520 hasRelatedWork W2077017927 @default.
- W2044616520 hasRelatedWork W2085975240 @default.
- W2044616520 hasRelatedWork W2098325466 @default.
- W2044616520 hasRelatedWork W2152234845 @default.
- W2044616520 hasRelatedWork W2385130702 @default.
- W2044616520 hasVolume "490" @default.
- W2044616520 isParatext "false" @default.
- W2044616520 isRetracted "false" @default.
- W2044616520 magId "2044616520" @default.
- W2044616520 workType "article" @default.