FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2057460974> ?p ?o ?g. }

• W2057460974 endingPage "407" @default.
• W2057460974 startingPage "399" @default.
• W2057460974 abstract "Familial hypercholesterolemia (FH) is an autosomal codominant disease, caused by mutations in the LDL receptor gene. To characterize the distribution of genetic aberrations in Swedish FH-patients fulfilling the clinical criteria of FH, we have investigated 150 unrelated Swedish patients for mutations in the LDL receptor gene and for the most common mutation causing familial ligand defective apo B-100 (FDB). Of the patients, 77 were recruited from Huddinge University Hospital in Stockholm and 73 from Sahlgren's University Hospital in Göteborg. Screening was carried out using SSCP and Southern blotting techniques, combined with DNA sequence analysis. In total, mutations regarded as cause for disease were identified in 55 patients (37%), representing 32 different types of mutations. In the LDL receptor gene we detected four nonsense mutations, 13 missense mutations, seven splice junction mutations, and four major rearrangements. In addition, two small deletions were identified and one base exchange in the promoter region. The most common mutation (apo B3500) causing FDB was found in three patients. The most frequent mutation was FH-Helsinki, reflecting the admixture of Finnish immigrants. We further identified 15 point mutations which were not considered to affect the function of the gene, and thus were regarded as polymorphic changes. This multitude of mutations reflects a heterogeneous genetic background in our series of Swedish FH-patients and differs from the situation in the other Scandinavian countries. Future studies should aim at characterizing the importance of other genes for the development of the FH phenotype." @default.
• W2057460974 created "2016-06-24" @default.
• W2057460974 creator A5021240310 @default.
• W2057460974 creator A5039649863 @default.
• W2057460974 creator A5040863697 @default.
• W2057460974 creator A5048819643 @default.
• W2057460974 creator A5058228177 @default.
• W2057460974 creator A5087634388 @default.
• W2057460974 date "2002-08-01" @default.
• W2057460974 modified "2023-10-18" @default.
• W2057460974 title "Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene" @default.
• W2057460974 cites W1550959999 @default.
• W2057460974 cites W1585988293 @default.
• W2057460974 cites W1964954073 @default.
• W2057460974 cites W1965974276 @default.
• W2057460974 cites W1975264468 @default.
• W2057460974 cites W1977646519 @default.
• W2057460974 cites W1980740566 @default.
• W2057460974 cites W1980786839 @default.
• W2057460974 cites W1993218835 @default.
• W2057460974 cites W1993249061 @default.
• W2057460974 cites W1993702137 @default.
• W2057460974 cites W2000175549 @default.
• W2057460974 cites W2000322053 @default.
• W2057460974 cites W2011799115 @default.
• W2057460974 cites W2012809844 @default.
• W2057460974 cites W2025959221 @default.
• W2057460974 cites W2030060743 @default.
• W2057460974 cites W2030617406 @default.
• W2057460974 cites W2033216341 @default.
• W2057460974 cites W2033642373 @default.
• W2057460974 cites W2033862049 @default.
• W2057460974 cites W2039999119 @default.
• W2057460974 cites W2043823780 @default.
• W2057460974 cites W2050383105 @default.
• W2057460974 cites W2080546884 @default.
• W2057460974 cites W2082663233 @default.
• W2057460974 cites W2084858643 @default.
• W2057460974 cites W2102116643 @default.
• W2057460974 cites W2110482551 @default.
• W2057460974 cites W2120146719 @default.
• W2057460974 cites W2123717499 @default.
• W2057460974 cites W2126812847 @default.
• W2057460974 cites W2137776860 @default.
• W2057460974 cites W2140872110 @default.
• W2057460974 cites W2144952519 @default.
• W2057460974 cites W2147346175 @default.
• W2057460974 cites W2158340752 @default.
• W2057460974 cites W2159027999 @default.
• W2057460974 cites W2160552210 @default.
• W2057460974 cites W2163157898 @default.
• W2057460974 cites W2166200597 @default.
• W2057460974 cites W2170750408 @default.
• W2057460974 cites W2320397717 @default.
• W2057460974 cites W4242667316 @default.
• W2057460974 doi "https://doi.org/10.1016/s0021-9150(02)00038-2" @default.
• W2057460974 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12052488" @default.
• W2057460974 hasPublicationYear "2002" @default.
• W2057460974 type Work @default.
• W2057460974 sameAs 2057460974 @default.
• W2057460974 citedByCount "25" @default.
• W2057460974 countsByYear W20574609742012 @default.
• W2057460974 countsByYear W20574609742014 @default.
• W2057460974 countsByYear W20574609742015 @default.
• W2057460974 countsByYear W20574609742016 @default.
• W2057460974 countsByYear W20574609742018 @default.
• W2057460974 countsByYear W20574609742019 @default.
• W2057460974 countsByYear W20574609742020 @default.
• W2057460974 countsByYear W20574609742021 @default.
• W2057460974 crossrefType "journal-article" @default.
• W2057460974 hasAuthorship W2057460974A5021240310 @default.
• W2057460974 hasAuthorship W2057460974A5039649863 @default.
• W2057460974 hasAuthorship W2057460974A5040863697 @default.
• W2057460974 hasAuthorship W2057460974A5048819643 @default.
• W2057460974 hasAuthorship W2057460974A5058228177 @default.
• W2057460974 hasAuthorship W2057460974A5087634388 @default.
• W2057460974 hasConcept C104317684 @default.
• W2057460974 hasConcept C134018914 @default.
• W2057460974 hasConcept C163565370 @default.
• W2057460974 hasConcept C176944494 @default.
• W2057460974 hasConcept C2778163477 @default.
• W2057460974 hasConcept C2779120738 @default.
• W2057460974 hasConcept C2994225774 @default.
• W2057460974 hasConcept C36823959 @default.
• W2057460974 hasConcept C501734568 @default.
• W2057460974 hasConcept C54355233 @default.
• W2057460974 hasConcept C75563809 @default.
• W2057460974 hasConcept C86803240 @default.
• W2057460974 hasConcept C96777560 @default.
• W2057460974 hasConceptScore W2057460974C104317684 @default.
• W2057460974 hasConceptScore W2057460974C134018914 @default.
• W2057460974 hasConceptScore W2057460974C163565370 @default.
• W2057460974 hasConceptScore W2057460974C176944494 @default.
• W2057460974 hasConceptScore W2057460974C2778163477 @default.
• W2057460974 hasConceptScore W2057460974C2779120738 @default.
• W2057460974 hasConceptScore W2057460974C2994225774 @default.
• W2057460974 hasConceptScore W2057460974C36823959 @default.
• W2057460974 hasConceptScore W2057460974C501734568 @default.

• next