Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000439230> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2000439230 endingPage "50" @default.
- W2000439230 startingPage "46" @default.
- W2000439230 abstract "We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. Direct DNA sequencing showed both a normal GAG (Glu) and a variant AAG (Lys) codon at amino acid position 89 of mature TTR, which has not been previously reported. The site of this mutation is near the 3' end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA)." @default.
- W2000439230 created "2016-06-24" @default.
- W2000439230 creator A5043229467 @default.
- W2000439230 creator A5050572230 @default.
- W2000439230 creator A5084892827 @default.
- W2000439230 date "2000-01-01" @default.
- W2000439230 modified "2023-09-25" @default.
- W2000439230 title "A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy" @default.
- W2000439230 cites W1555692677 @default.
- W2000439230 cites W1965238837 @default.
- W2000439230 cites W1968663866 @default.
- W2000439230 cites W1984653483 @default.
- W2000439230 cites W1986792544 @default.
- W2000439230 cites W1996341900 @default.
- W2000439230 cites W2001570292 @default.
- W2000439230 cites W2009680863 @default.
- W2000439230 cites W2015686961 @default.
- W2000439230 cites W2018150478 @default.
- W2000439230 cites W2067494028 @default.
- W2000439230 cites W2068641769 @default.
- W2000439230 cites W2074214581 @default.
- W2000439230 cites W2079037601 @default.
- W2000439230 cites W2102788686 @default.
- W2000439230 cites W2127955093 @default.
- W2000439230 cites W4243375564 @default.
- W2000439230 doi "https://doi.org/10.3109/13506120009146824" @default.
- W2000439230 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10842705" @default.
- W2000439230 hasPublicationYear "2000" @default.
- W2000439230 type Work @default.
- W2000439230 sameAs 2000439230 @default.
- W2000439230 citedByCount "21" @default.
- W2000439230 countsByYear W20004392302013 @default.
- W2000439230 countsByYear W20004392302015 @default.
- W2000439230 countsByYear W20004392302017 @default.
- W2000439230 countsByYear W20004392302019 @default.
- W2000439230 countsByYear W20004392302021 @default.
- W2000439230 countsByYear W20004392302022 @default.
- W2000439230 crossrefType "journal-article" @default.
- W2000439230 hasAuthorship W2000439230A5043229467 @default.
- W2000439230 hasAuthorship W2000439230A5050572230 @default.
- W2000439230 hasAuthorship W2000439230A5084892827 @default.
- W2000439230 hasConcept C104317684 @default.
- W2000439230 hasConcept C121157162 @default.
- W2000439230 hasConcept C126322002 @default.
- W2000439230 hasConcept C134018914 @default.
- W2000439230 hasConcept C153911025 @default.
- W2000439230 hasConcept C176944494 @default.
- W2000439230 hasConcept C2775892965 @default.
- W2000439230 hasConcept C2777767895 @default.
- W2000439230 hasConcept C2779134260 @default.
- W2000439230 hasConcept C2779951007 @default.
- W2000439230 hasConcept C2910844529 @default.
- W2000439230 hasConcept C36823959 @default.
- W2000439230 hasConcept C501734568 @default.
- W2000439230 hasConcept C54355233 @default.
- W2000439230 hasConcept C71924100 @default.
- W2000439230 hasConcept C86803240 @default.
- W2000439230 hasConceptScore W2000439230C104317684 @default.
- W2000439230 hasConceptScore W2000439230C121157162 @default.
- W2000439230 hasConceptScore W2000439230C126322002 @default.
- W2000439230 hasConceptScore W2000439230C134018914 @default.
- W2000439230 hasConceptScore W2000439230C153911025 @default.
- W2000439230 hasConceptScore W2000439230C176944494 @default.
- W2000439230 hasConceptScore W2000439230C2775892965 @default.
- W2000439230 hasConceptScore W2000439230C2777767895 @default.
- W2000439230 hasConceptScore W2000439230C2779134260 @default.
- W2000439230 hasConceptScore W2000439230C2779951007 @default.
- W2000439230 hasConceptScore W2000439230C2910844529 @default.
- W2000439230 hasConceptScore W2000439230C36823959 @default.
- W2000439230 hasConceptScore W2000439230C501734568 @default.
- W2000439230 hasConceptScore W2000439230C54355233 @default.
- W2000439230 hasConceptScore W2000439230C71924100 @default.
- W2000439230 hasConceptScore W2000439230C86803240 @default.
- W2000439230 hasIssue "1" @default.
- W2000439230 hasLocation W20004392301 @default.
- W2000439230 hasLocation W20004392302 @default.
- W2000439230 hasOpenAccess W2000439230 @default.
- W2000439230 hasPrimaryLocation W20004392301 @default.
- W2000439230 hasRelatedWork W1969986708 @default.
- W2000439230 hasRelatedWork W1992467214 @default.
- W2000439230 hasRelatedWork W2022945618 @default.
- W2000439230 hasRelatedWork W2049280456 @default.
- W2000439230 hasRelatedWork W2091011078 @default.
- W2000439230 hasRelatedWork W2115876300 @default.
- W2000439230 hasRelatedWork W2164614237 @default.
- W2000439230 hasRelatedWork W2242507958 @default.
- W2000439230 hasRelatedWork W2332699922 @default.
- W2000439230 hasRelatedWork W2964609037 @default.
- W2000439230 hasVolume "7" @default.
- W2000439230 isParatext "false" @default.
- W2000439230 isRetracted "false" @default.
- W2000439230 magId "2000439230" @default.
- W2000439230 workType "article" @default.