The c.43_44insCTG variation in PCSK9 is
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Pin Yue; Maurizio Averna; Xiaobo Lin; Gustav Schonfeld
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Article
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2006
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John Wiley and Sons
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English
⚖ 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.