FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2320320072> ?p ?o ?g. }

• W2320320072 endingPage "56" @default.
• W2320320072 startingPage "52" @default.
• W2320320072 abstract "Background and aims Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by decreased plasma levels of LDL-cholesterol and apolipoprotein B (ApoB). Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB and PCSK9 gene mutations and on western blotting to detect truncated ApoB species. Methods Here, we applied targeted enrichment and next-generation sequencing (NGS) on a panel of three FHBL genes and two abetalipoproteinemia genes (APOB, PCSK9, ANGPTL3, MTTP and SAR1B). Results In this study, we identified five likely pathogenic heterozygous rare variants. These include four novel nonsense mutations in APOB (p.Gln845*, p.Gln2571*, p.Cys2933* and p.Ser3718*) and a rare variant in PCSK9 (Minor Allele Frequency <0.1%). The affected family members tested were shown to be carriers, suggesting co-segregation with low LDL-C. Conclusions Our study further demonstrates that NGS is a reliable and practical approach for the molecular screening of FHBL-causative genes that may provide a mean for deciphering the genetic basis in FHBL." @default.
• W2320320072 created "2016-06-24" @default.
• W2320320072 creator A5009182471 @default.
• W2320320072 creator A5014072104 @default.
• W2320320072 creator A5031197087 @default.
• W2320320072 creator A5031579548 @default.
• W2320320072 creator A5041253450 @default.
• W2320320072 creator A5043484813 @default.
• W2320320072 creator A5053756068 @default.
• W2320320072 creator A5063719536 @default.
• W2320320072 creator A5063913582 @default.
• W2320320072 creator A5071168732 @default.
• W2320320072 creator A5071896100 @default.
• W2320320072 creator A5075686624 @default.
• W2320320072 creator A5086144539 @default.
• W2320320072 date "2016-07-01" @default.
• W2320320072 modified "2023-10-14" @default.
• W2320320072 title "Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia" @default.
• W2320320072 cites W1944135887 @default.
• W2320320072 cites W1978190108 @default.
• W2320320072 cites W1991364339 @default.
• W2320320072 cites W2027196973 @default.
• W2320320072 cites W2039248941 @default.
• W2320320072 cites W2067539811 @default.
• W2320320072 cites W2085465211 @default.
• W2320320072 cites W2101860651 @default.
• W2320320072 cites W2106937178 @default.
• W2320320072 cites W2117131162 @default.
• W2320320072 cites W2122955674 @default.
• W2320320072 cites W2129047745 @default.
• W2320320072 cites W2130626257 @default.
• W2320320072 cites W2131029233 @default.
• W2320320072 cites W2131747785 @default.
• W2320320072 cites W2140622082 @default.
• W2320320072 cites W2142453541 @default.
• W2320320072 cites W2144559371 @default.
• W2320320072 cites W2185919342 @default.
• W2320320072 cites W2288718157 @default.
• W2320320072 cites W2317043038 @default.
• W2320320072 doi "https://doi.org/10.1016/j.atherosclerosis.2016.04.010" @default.
• W2320320072 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27179706" @default.
• W2320320072 hasPublicationYear "2016" @default.
• W2320320072 type Work @default.
• W2320320072 sameAs 2320320072 @default.
• W2320320072 citedByCount "17" @default.
• W2320320072 countsByYear W23203200722017 @default.
• W2320320072 countsByYear W23203200722018 @default.
• W2320320072 countsByYear W23203200722019 @default.
• W2320320072 countsByYear W23203200722020 @default.
• W2320320072 countsByYear W23203200722021 @default.
• W2320320072 countsByYear W23203200722022 @default.
• W2320320072 crossrefType "journal-article" @default.
• W2320320072 hasAuthorship W2320320072A5009182471 @default.
• W2320320072 hasAuthorship W2320320072A5014072104 @default.
• W2320320072 hasAuthorship W2320320072A5031197087 @default.
• W2320320072 hasAuthorship W2320320072A5031579548 @default.
• W2320320072 hasAuthorship W2320320072A5041253450 @default.
• W2320320072 hasAuthorship W2320320072A5043484813 @default.
• W2320320072 hasAuthorship W2320320072A5053756068 @default.
• W2320320072 hasAuthorship W2320320072A5063719536 @default.
• W2320320072 hasAuthorship W2320320072A5063913582 @default.
• W2320320072 hasAuthorship W2320320072A5071168732 @default.
• W2320320072 hasAuthorship W2320320072A5071896100 @default.
• W2320320072 hasAuthorship W2320320072A5075686624 @default.
• W2320320072 hasAuthorship W2320320072A5086144539 @default.
• W2320320072 hasBestOaLocation W23203200722 @default.
• W2320320072 hasConcept C104317684 @default.
• W2320320072 hasConcept C134018914 @default.
• W2320320072 hasConcept C180754005 @default.
• W2320320072 hasConcept C2778163477 @default.
• W2320320072 hasConcept C2780072125 @default.
• W2320320072 hasConcept C2780948078 @default.
• W2320320072 hasConcept C43554185 @default.
• W2320320072 hasConcept C501734568 @default.
• W2320320072 hasConcept C51679486 @default.
• W2320320072 hasConcept C54355233 @default.
• W2320320072 hasConcept C62746215 @default.
• W2320320072 hasConcept C76818968 @default.
• W2320320072 hasConcept C86803240 @default.
• W2320320072 hasConceptScore W2320320072C104317684 @default.
• W2320320072 hasConceptScore W2320320072C134018914 @default.
• W2320320072 hasConceptScore W2320320072C180754005 @default.
• W2320320072 hasConceptScore W2320320072C2778163477 @default.
• W2320320072 hasConceptScore W2320320072C2780072125 @default.
• W2320320072 hasConceptScore W2320320072C2780948078 @default.
• W2320320072 hasConceptScore W2320320072C43554185 @default.
• W2320320072 hasConceptScore W2320320072C501734568 @default.
• W2320320072 hasConceptScore W2320320072C51679486 @default.
• W2320320072 hasConceptScore W2320320072C54355233 @default.
• W2320320072 hasConceptScore W2320320072C62746215 @default.
• W2320320072 hasConceptScore W2320320072C76818968 @default.
• W2320320072 hasConceptScore W2320320072C86803240 @default.
• W2320320072 hasFunder F4320320890 @default.
• W2320320072 hasFunder F4320322891 @default.
• W2320320072 hasLocation W23203200721 @default.
• W2320320072 hasLocation W23203200722 @default.
• W2320320072 hasLocation W23203200723 @default.
• W2320320072 hasLocation W23203200724 @default.

• next