PMID: 26081744

Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

Nature communications
B Bissig-Choisat, L Wang, X Legras, PK Saha, L Chen, P Bell, FP Pankowicz, MC Hill, M Barzi, CK Leyton, HE Leung, RL Kruse, RW Himes, JA Goss, JM Wilson, L Chan, WR Lagor, KD Bissig

10 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
19-11222231-T-C LDLR c.1102T>C p.Cys368Arg Missense 8/18 -
19-11233941-A-C LDLR c.2232A>C p.Arg744Arg Synonymous 15/18 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
19-11221457-G-C LDLR c.1060+10G>C - IntronicSNV - 7/17
19-11233941-A-T LDLR c.2232A>T p.Arg744Arg Synonymous 15/18 -
19-11233939-C-A LDLR c.2230C>A p.Arg744Arg Synonymous 15/18 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
19-11224263-A-C LDLR c.1411A>C p.Arg471Arg Synonymous 10/18 -
19-11222232-G-A LDLR c.1103G>A p.Cys368Tyr Missense 8/18 -