FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2894912183> ?p ?o ?g. }

• W2894912183 endingPage "537" @default.
• W2894912183 startingPage "537" @default.
• W2894912183 abstract "This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea.The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014.The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients.South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia." @default.
• W2894912183 created "2018-10-12" @default.
• W2894912183 creator A5000608026 @default.
• W2894912183 creator A5013006355 @default.
• W2894912183 creator A5013694438 @default.
• W2894912183 creator A5014655554 @default.
• W2894912183 creator A5024616097 @default.
• W2894912183 creator A5031300326 @default.
• W2894912183 creator A5031663382 @default.
• W2894912183 creator A5036788044 @default.
• W2894912183 creator A5063347352 @default.
• W2894912183 creator A5065379746 @default.
• W2894912183 creator A5067013399 @default.
• W2894912183 creator A5074393048 @default.
• W2894912183 creator A5080716560 @default.
• W2894912183 date "2018-01-01" @default.
• W2894912183 modified "2023-09-26" @default.
• W2894912183 title "Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis" @default.
• W2894912183 cites W1465733833 @default.
• W2894912183 cites W1770864433 @default.
• W2894912183 cites W1966561921 @default.
• W2894912183 cites W1975873564 @default.
• W2894912183 cites W1975879039 @default.
• W2894912183 cites W1985918137 @default.
• W2894912183 cites W1995098882 @default.
• W2894912183 cites W1995755342 @default.
• W2894912183 cites W2029703703 @default.
• W2894912183 cites W2030399712 @default.
• W2894912183 cites W2038751538 @default.
• W2894912183 cites W2046042617 @default.
• W2894912183 cites W2115862827 @default.
• W2894912183 cites W2118369819 @default.
• W2894912183 cites W2126501528 @default.
• W2894912183 cites W2143837762 @default.
• W2894912183 cites W2153030997 @default.
• W2894912183 cites W2161361889 @default.
• W2894912183 cites W2171561339 @default.
• W2894912183 cites W2314304229 @default.
• W2894912183 cites W2412402157 @default.
• W2894912183 cites W2465483060 @default.
• W2894912183 cites W2554150798 @default.
• W2894912183 cites W2769939529 @default.
• W2894912183 cites W4244745664 @default.
• W2894912183 doi "https://doi.org/10.3988/jcn.2018.14.4.537" @default.
• W2894912183 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6172511" @default.
• W2894912183 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30198232" @default.
• W2894912183 hasPublicationYear "2018" @default.
• W2894912183 type Work @default.
• W2894912183 sameAs 2894912183 @default.
• W2894912183 citedByCount "8" @default.
• W2894912183 countsByYear W28949121832019 @default.
• W2894912183 countsByYear W28949121832020 @default.
• W2894912183 countsByYear W28949121832021 @default.
• W2894912183 countsByYear W28949121832022 @default.
• W2894912183 countsByYear W28949121832023 @default.
• W2894912183 crossrefType "journal-article" @default.
• W2894912183 hasAuthorship W2894912183A5000608026 @default.
• W2894912183 hasAuthorship W2894912183A5013006355 @default.
• W2894912183 hasAuthorship W2894912183A5013694438 @default.
• W2894912183 hasAuthorship W2894912183A5014655554 @default.
• W2894912183 hasAuthorship W2894912183A5024616097 @default.
• W2894912183 hasAuthorship W2894912183A5031300326 @default.
• W2894912183 hasAuthorship W2894912183A5031663382 @default.
• W2894912183 hasAuthorship W2894912183A5036788044 @default.
• W2894912183 hasAuthorship W2894912183A5063347352 @default.
• W2894912183 hasAuthorship W2894912183A5065379746 @default.
• W2894912183 hasAuthorship W2894912183A5067013399 @default.
• W2894912183 hasAuthorship W2894912183A5074393048 @default.
• W2894912183 hasAuthorship W2894912183A5080716560 @default.
• W2894912183 hasBestOaLocation W28949121831 @default.
• W2894912183 hasConcept C104317684 @default.
• W2894912183 hasConcept C121157162 @default.
• W2894912183 hasConcept C126322002 @default.
• W2894912183 hasConcept C127716648 @default.
• W2894912183 hasConcept C187212893 @default.
• W2894912183 hasConcept C2779134260 @default.
• W2894912183 hasConcept C2779951007 @default.
• W2894912183 hasConcept C2908647359 @default.
• W2894912183 hasConcept C501734568 @default.
• W2894912183 hasConcept C54355233 @default.
• W2894912183 hasConcept C64618202 @default.
• W2894912183 hasConcept C71924100 @default.
• W2894912183 hasConcept C86803240 @default.
• W2894912183 hasConcept C90924648 @default.
• W2894912183 hasConcept C99454951 @default.
• W2894912183 hasConceptScore W2894912183C104317684 @default.
• W2894912183 hasConceptScore W2894912183C121157162 @default.
• W2894912183 hasConceptScore W2894912183C126322002 @default.
• W2894912183 hasConceptScore W2894912183C127716648 @default.
• W2894912183 hasConceptScore W2894912183C187212893 @default.
• W2894912183 hasConceptScore W2894912183C2779134260 @default.
• W2894912183 hasConceptScore W2894912183C2779951007 @default.
• W2894912183 hasConceptScore W2894912183C2908647359 @default.
• W2894912183 hasConceptScore W2894912183C501734568 @default.
• W2894912183 hasConceptScore W2894912183C54355233 @default.
• W2894912183 hasConceptScore W2894912183C64618202 @default.
• W2894912183 hasConceptScore W2894912183C71924100 @default.
• W2894912183 hasConceptScore W2894912183C86803240 @default.

• next