Matches in SemOpenAlex for { <https://semopenalex.org/work/W2123222717> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2123222717 abstract "Abstract Hypotrichosis is characterised by sparse scalp hair, sparse to absent eyebrows and eyelashes, or absence of hair from other parts of the body. In few cases, the condition is associated with tightly curled woolly scalp hair. The present study searched for disease‐causing sequence variants in the genes in four Pakistani lineal consanguineous families exhibiting features of hypotrichosis or woolly hair. A haplotype analysis established links in all four families to the LIPH gene located on chromosome 3q27.2. Subsequently, sequencing LIPH identified a novel non‐sense mutation (c.328C> T ; p. A rg110*) in one and a previously reported 2‐bp deletion mutation (c.659_ 660delTA , p. Ile220ArgfsX29 ) in three other families." @default.
- W2123222717 created "2016-06-24" @default.
- W2123222717 creator A5000291830 @default.
- W2123222717 creator A5008904019 @default.
- W2123222717 creator A5011087640 @default.
- W2123222717 creator A5014079273 @default.
- W2123222717 creator A5021492500 @default.
- W2123222717 creator A5032347917 @default.
- W2123222717 creator A5062242356 @default.
- W2123222717 creator A5063919419 @default.
- W2123222717 creator A5085114591 @default.
- W2123222717 date "2014-03-13" @default.
- W2123222717 modified "2023-10-15" @default.
- W2123222717 title "Mutations in the lipase‐<scp>H</scp> gene causing autosomal recessive hypotrichosis and woolly hair" @default.
- W2123222717 cites W1587856966 @default.
- W2123222717 cites W1963865721 @default.
- W2123222717 cites W1984948338 @default.
- W2123222717 cites W2020284480 @default.
- W2123222717 cites W2028875959 @default.
- W2123222717 cites W2049770721 @default.
- W2123222717 cites W2049905932 @default.
- W2123222717 cites W2070849924 @default.
- W2123222717 cites W2159477049 @default.
- W2123222717 cites W2163916112 @default.
- W2123222717 doi "https://doi.org/10.1111/ajd.12157" @default.
- W2123222717 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24628704" @default.
- W2123222717 hasPublicationYear "2014" @default.
- W2123222717 type Work @default.
- W2123222717 sameAs 2123222717 @default.
- W2123222717 citedByCount "10" @default.
- W2123222717 countsByYear W21232227172014 @default.
- W2123222717 countsByYear W21232227172015 @default.
- W2123222717 countsByYear W21232227172016 @default.
- W2123222717 countsByYear W21232227172017 @default.
- W2123222717 countsByYear W21232227172019 @default.
- W2123222717 countsByYear W21232227172020 @default.
- W2123222717 countsByYear W21232227172021 @default.
- W2123222717 crossrefType "journal-article" @default.
- W2123222717 hasAuthorship W2123222717A5000291830 @default.
- W2123222717 hasAuthorship W2123222717A5008904019 @default.
- W2123222717 hasAuthorship W2123222717A5011087640 @default.
- W2123222717 hasAuthorship W2123222717A5014079273 @default.
- W2123222717 hasAuthorship W2123222717A5021492500 @default.
- W2123222717 hasAuthorship W2123222717A5032347917 @default.
- W2123222717 hasAuthorship W2123222717A5062242356 @default.
- W2123222717 hasAuthorship W2123222717A5063919419 @default.
- W2123222717 hasAuthorship W2123222717A5085114591 @default.
- W2123222717 hasConcept C104317684 @default.
- W2123222717 hasConcept C105702510 @default.
- W2123222717 hasConcept C180754005 @default.
- W2123222717 hasConcept C197754878 @default.
- W2123222717 hasConcept C2777918589 @default.
- W2123222717 hasConcept C2778102086 @default.
- W2123222717 hasConcept C2778515351 @default.
- W2123222717 hasConcept C501734568 @default.
- W2123222717 hasConcept C54355233 @default.
- W2123222717 hasConcept C86803240 @default.
- W2123222717 hasConceptScore W2123222717C104317684 @default.
- W2123222717 hasConceptScore W2123222717C105702510 @default.
- W2123222717 hasConceptScore W2123222717C180754005 @default.
- W2123222717 hasConceptScore W2123222717C197754878 @default.
- W2123222717 hasConceptScore W2123222717C2777918589 @default.
- W2123222717 hasConceptScore W2123222717C2778102086 @default.
- W2123222717 hasConceptScore W2123222717C2778515351 @default.
- W2123222717 hasConceptScore W2123222717C501734568 @default.
- W2123222717 hasConceptScore W2123222717C54355233 @default.
- W2123222717 hasConceptScore W2123222717C86803240 @default.
- W2123222717 hasFunder F4320326343 @default.
- W2123222717 hasIssue "3" @default.
- W2123222717 hasLocation W21232227171 @default.
- W2123222717 hasLocation W21232227172 @default.
- W2123222717 hasOpenAccess W2123222717 @default.
- W2123222717 hasPrimaryLocation W21232227171 @default.
- W2123222717 hasRelatedWork W1756775206 @default.
- W2123222717 hasRelatedWork W1996842107 @default.
- W2123222717 hasRelatedWork W2019942019 @default.
- W2123222717 hasRelatedWork W2049203926 @default.
- W2123222717 hasRelatedWork W2075311330 @default.
- W2123222717 hasRelatedWork W2204116490 @default.
- W2123222717 hasRelatedWork W2614501449 @default.
- W2123222717 hasRelatedWork W3093576479 @default.
- W2123222717 hasRelatedWork W3175817117 @default.
- W2123222717 hasRelatedWork W3199817509 @default.
- W2123222717 hasVolume "56" @default.
- W2123222717 isParatext "false" @default.
- W2123222717 isRetracted "false" @default.
- W2123222717 magId "2123222717" @default.
- W2123222717 workType "article" @default.