Matches in SemOpenAlex for { <https://semopenalex.org/work/W2155554903> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W2155554903 endingPage "590" @default.
- W2155554903 startingPage "586" @default.
- W2155554903 abstract "Abstract There are two known autosomal dominant genes for the hereditary ulcero‐mutilating neuropathies: SPTLC1 (hereditary sensory neuropathy type 1) and RAB7 (Charcot–Marie–Tooth disease type 2B). We report a family with autosomal dominant ulcero‐mutilating neuropathy, developing in the teens and characterized by ulcers, amputations, sensory involvement in the feet but no motor features. Sequencing the RAB7 gene showed a novel heterozygous A to C mutation, changing asparagine to threonine at codon 161. The mutation is situated adjacent to a previously identified valine to methionine mutation at codon 162, implying a hotspot for mutations in the highly conserved C terminus of RAB7 . Ann Neurol 2004;56:586–590" @default.
- W2155554903 created "2016-06-24" @default.
- W2155554903 creator A5021057974 @default.
- W2155554903 creator A5023757079 @default.
- W2155554903 creator A5047801067 @default.
- W2155554903 creator A5062092102 @default.
- W2155554903 creator A5072717487 @default.
- W2155554903 creator A5074637295 @default.
- W2155554903 creator A5079257891 @default.
- W2155554903 date "2004-09-28" @default.
- W2155554903 modified "2023-10-18" @default.
- W2155554903 title "A novel RAB7 mutation associated with ulcero-mutilating neuropathy" @default.
- W2155554903 cites W1529853299 @default.
- W2155554903 cites W1589042524 @default.
- W2155554903 cites W1969182566 @default.
- W2155554903 cites W1977303922 @default.
- W2155554903 cites W1986914392 @default.
- W2155554903 cites W1988310528 @default.
- W2155554903 cites W1993332307 @default.
- W2155554903 cites W1993458247 @default.
- W2155554903 cites W2024207526 @default.
- W2155554903 cites W2035850601 @default.
- W2155554903 cites W2086698861 @default.
- W2155554903 cites W2100096634 @default.
- W2155554903 cites W2102400397 @default.
- W2155554903 cites W2113844065 @default.
- W2155554903 cites W2116422958 @default.
- W2155554903 cites W2147761400 @default.
- W2155554903 cites W4232813881 @default.
- W2155554903 doi "https://doi.org/10.1002/ana.20281" @default.
- W2155554903 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15455439" @default.
- W2155554903 hasPublicationYear "2004" @default.
- W2155554903 type Work @default.
- W2155554903 sameAs 2155554903 @default.
- W2155554903 citedByCount "112" @default.
- W2155554903 countsByYear W21555549032012 @default.
- W2155554903 countsByYear W21555549032013 @default.
- W2155554903 countsByYear W21555549032014 @default.
- W2155554903 countsByYear W21555549032015 @default.
- W2155554903 countsByYear W21555549032016 @default.
- W2155554903 countsByYear W21555549032017 @default.
- W2155554903 countsByYear W21555549032018 @default.
- W2155554903 countsByYear W21555549032019 @default.
- W2155554903 countsByYear W21555549032020 @default.
- W2155554903 countsByYear W21555549032021 @default.
- W2155554903 countsByYear W21555549032022 @default.
- W2155554903 countsByYear W21555549032023 @default.
- W2155554903 crossrefType "journal-article" @default.
- W2155554903 hasAuthorship W2155554903A5021057974 @default.
- W2155554903 hasAuthorship W2155554903A5023757079 @default.
- W2155554903 hasAuthorship W2155554903A5047801067 @default.
- W2155554903 hasAuthorship W2155554903A5062092102 @default.
- W2155554903 hasAuthorship W2155554903A5072717487 @default.
- W2155554903 hasAuthorship W2155554903A5074637295 @default.
- W2155554903 hasAuthorship W2155554903A5079257891 @default.
- W2155554903 hasConcept C104317684 @default.
- W2155554903 hasConcept C2777938335 @default.
- W2155554903 hasConcept C501734568 @default.
- W2155554903 hasConcept C54355233 @default.
- W2155554903 hasConcept C71924100 @default.
- W2155554903 hasConcept C75563809 @default.
- W2155554903 hasConcept C86803240 @default.
- W2155554903 hasConceptScore W2155554903C104317684 @default.
- W2155554903 hasConceptScore W2155554903C2777938335 @default.
- W2155554903 hasConceptScore W2155554903C501734568 @default.
- W2155554903 hasConceptScore W2155554903C54355233 @default.
- W2155554903 hasConceptScore W2155554903C71924100 @default.
- W2155554903 hasConceptScore W2155554903C75563809 @default.
- W2155554903 hasConceptScore W2155554903C86803240 @default.
- W2155554903 hasIssue "4" @default.
- W2155554903 hasLocation W21555549031 @default.
- W2155554903 hasLocation W21555549032 @default.
- W2155554903 hasOpenAccess W2155554903 @default.
- W2155554903 hasPrimaryLocation W21555549031 @default.
- W2155554903 hasRelatedWork W2028961943 @default.
- W2155554903 hasRelatedWork W2034625591 @default.
- W2155554903 hasRelatedWork W2069150591 @default.
- W2155554903 hasRelatedWork W2144614166 @default.
- W2155554903 hasRelatedWork W2170944934 @default.
- W2155554903 hasRelatedWork W2328259433 @default.
- W2155554903 hasRelatedWork W2400961892 @default.
- W2155554903 hasRelatedWork W2952702908 @default.
- W2155554903 hasRelatedWork W3004443428 @default.
- W2155554903 hasRelatedWork W4232163425 @default.
- W2155554903 hasVolume "56" @default.
- W2155554903 isParatext "false" @default.
- W2155554903 isRetracted "false" @default.
- W2155554903 magId "2155554903" @default.
- W2155554903 workType "article" @default.