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Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.

In this paper we report on the molecular defect underlying apolipoprotein CII (apoCII) deficiency in an Italian kindred. ApoCII serves as cofactor for lipoprotein lipase (LPL) in triglyceride hydrolysis of chylomicrons and very low density lipoproteins. Homozygous apoCII deficiency manifests with ty...

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Detalhes bibliográficos
Main Authors: Tuzgöl, S, Bijvoet, S M, Bruin, T, Kastelein, J J, Hayden, M R
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050024/
https://ncbi.nlm.nih.gov/pubmed/7815420
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