Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia

During the diagnosis of three unrelated patients with severe hypertriglyceridemia, three APOA5 mutations [p.(Ser232_Leu235)del, p.Leu253Pro, and p.Asp332ValfsX4] were found without evidence of concomitant LPL, APOC2, or GPIHBP1 mutations. The molecular mechanisms by which APOA5 mutations result in s...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Mendoza-Barberá, Elena, Julve, Josep, Nilsson, Stefan K., Lookene, Aivar, Martín-Campos, Jesús M., Roig, Rosa, Lechuga-Sancho, Alfonso M., Sloan, John H., Fuentes-Prior, Pablo, Blanco-Vaca, Francisco
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society for Biochemistry and Molecular Biology 2013
Θέματα:
Research Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617940/
https://ncbi.nlm.nih.gov/pubmed/23307945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.M031195
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