FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1966176345> ?p ?o ?g. }

• W1966176345 endingPage "295" @default.
• W1966176345 startingPage "288" @default.
• W1966176345 abstract "Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries." @default.
• W1966176345 created "2016-06-24" @default.
• W1966176345 creator A5009401009 @default.
• W1966176345 creator A5011660902 @default.
• W1966176345 creator A5012196033 @default.
• W1966176345 creator A5016927029 @default.
• W1966176345 creator A5025347732 @default.
• W1966176345 creator A5051492549 @default.
• W1966176345 date "2008-06-28" @default.
• W1966176345 modified "2023-10-16" @default.
• W1966176345 title "A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects" @default.
• W1966176345 cites W1569405015 @default.
• W1966176345 cites W1966720244 @default.
• W1966176345 cites W1982401945 @default.
• W1966176345 cites W1995032745 @default.
• W1966176345 cites W1996241166 @default.
• W1966176345 cites W2018823699 @default.
• W1966176345 cites W2026679815 @default.
• W1966176345 cites W2027476285 @default.
• W1966176345 cites W2032069849 @default.
• W1966176345 cites W2048136153 @default.
• W1966176345 cites W2054553279 @default.
• W1966176345 cites W2054884509 @default.
• W1966176345 cites W2061721184 @default.
• W1966176345 cites W2076663802 @default.
• W1966176345 cites W2084858643 @default.
• W1966176345 cites W2085799275 @default.
• W1966176345 cites W2086582479 @default.
• W1966176345 cites W2090763964 @default.
• W1966176345 cites W2167994535 @default.
• W1966176345 cites W2317786124 @default.
• W1966176345 doi "https://doi.org/10.1111/j.1399-0004.1992.tb03258.x" @default.
• W1966176345 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1362925" @default.
• W1966176345 hasPublicationYear "2008" @default.
• W1966176345 type Work @default.
• W1966176345 sameAs 1966176345 @default.
• W1966176345 citedByCount "10" @default.
• W1966176345 countsByYear W19661763452023 @default.
• W1966176345 crossrefType "journal-article" @default.
• W1966176345 hasAuthorship W1966176345A5009401009 @default.
• W1966176345 hasAuthorship W1966176345A5011660902 @default.
• W1966176345 hasAuthorship W1966176345A5012196033 @default.
• W1966176345 hasAuthorship W1966176345A5016927029 @default.
• W1966176345 hasAuthorship W1966176345A5025347732 @default.
• W1966176345 hasAuthorship W1966176345A5051492549 @default.
• W1966176345 hasConcept C104317684 @default.
• W1966176345 hasConcept C133307689 @default.
• W1966176345 hasConcept C134018914 @default.
• W1966176345 hasConcept C135763542 @default.
• W1966176345 hasConcept C153911025 @default.
• W1966176345 hasConcept C17757408 @default.
• W1966176345 hasConcept C188997412 @default.
• W1966176345 hasConcept C197754878 @default.
• W1966176345 hasConcept C206936463 @default.
• W1966176345 hasConcept C2778163477 @default.
• W1966176345 hasConcept C2779120738 @default.
• W1966176345 hasConcept C2780072125 @default.
• W1966176345 hasConcept C30481170 @default.
• W1966176345 hasConcept C36823959 @default.
• W1966176345 hasConcept C43554185 @default.
• W1966176345 hasConcept C501734568 @default.
• W1966176345 hasConcept C54355233 @default.
• W1966176345 hasConcept C86803240 @default.
• W1966176345 hasConcept C94671646 @default.
• W1966176345 hasConceptScore W1966176345C104317684 @default.
• W1966176345 hasConceptScore W1966176345C133307689 @default.
• W1966176345 hasConceptScore W1966176345C134018914 @default.
• W1966176345 hasConceptScore W1966176345C135763542 @default.
• W1966176345 hasConceptScore W1966176345C153911025 @default.
• W1966176345 hasConceptScore W1966176345C17757408 @default.
• W1966176345 hasConceptScore W1966176345C188997412 @default.
• W1966176345 hasConceptScore W1966176345C197754878 @default.
• W1966176345 hasConceptScore W1966176345C206936463 @default.
• W1966176345 hasConceptScore W1966176345C2778163477 @default.
• W1966176345 hasConceptScore W1966176345C2779120738 @default.
• W1966176345 hasConceptScore W1966176345C2780072125 @default.
• W1966176345 hasConceptScore W1966176345C30481170 @default.
• W1966176345 hasConceptScore W1966176345C36823959 @default.
• W1966176345 hasConceptScore W1966176345C43554185 @default.
• W1966176345 hasConceptScore W1966176345C501734568 @default.
• W1966176345 hasConceptScore W1966176345C54355233 @default.
• W1966176345 hasConceptScore W1966176345C86803240 @default.
• W1966176345 hasConceptScore W1966176345C94671646 @default.
• W1966176345 hasIssue "6" @default.
• W1966176345 hasLocation W19661763451 @default.
• W1966176345 hasLocation W19661763452 @default.
• W1966176345 hasOpenAccess W1966176345 @default.
• W1966176345 hasPrimaryLocation W19661763451 @default.
• W1966176345 hasRelatedWork W101874289 @default.
• W1966176345 hasRelatedWork W1876192163 @default.
• W1966176345 hasRelatedWork W1970749007 @default.
• W1966176345 hasRelatedWork W2086270301 @default.
• W1966176345 hasRelatedWork W2146081899 @default.
• W1966176345 hasRelatedWork W2252798758 @default.
• W1966176345 hasRelatedWork W2362650105 @default.
• W1966176345 hasRelatedWork W2409659357 @default.
• W1966176345 hasRelatedWork W2463255931 @default.
• W1966176345 hasRelatedWork W3030799741 @default.

• next