PMID: 24334831

Cholesterol: the good, the bad, and the ugly - therapeutic targets for the treatment of dyslipidemia.

Medical principles and practice : international journal of the Kuwait University, Health Science Centre
NA Elshourbagy, HV Meyers, SS Abdel-Meguid
2014

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
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 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -