PMID: 23776352

The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

The application of clinical genetics
I De Castro-Orós, M Pocoví, F Civeira

5 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -