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The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population

✍ Scribed by Amanda J. Hooper; A. David Marais; Donald M. Tanyanyiwa; John R. Burnett


Book ID
118421396
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
142 KB
Volume
193
Category
Article
ISSN
0021-9150

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The c.43_44insCTG variation in PCSK9 is
✍ Pin Yue; Maurizio Averna; Xiaobo Lin; Gustav Schonfeld πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 184 KB

The genetic etiology of familial hypobetalipoproteinemia (FHBL) is unclear in the majority of cases. Mutations in apolipoprotein B (APOB) are the only confirmed causes of FHBL. Recently, loss-of-function mutations of PCSK9 gene have been shown to be associated with the hypocholesterolemia phenotype.