Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: LDLR: 185C>T; Thr62Met
p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.
Scientific Reports
Benito-Vicente, A A; Siddiqi, H H; Uribe, K B KB; Jebari, S S; Galicia-Garcia, U U; Larrea-Sebal, A A; Stef, M M; Ostolaza, H H; Palacios, L L; Martin, C C
Publication Date: 2018-11-09
Variant appearance in text: LDLR: 185C>T; Thr62Met
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2016-03
Variant appearance in text: LDLR: 185C>T; Thr62Met