Clinical and functional evidence supporting pathogenicity of a novel APOA5 variant in familial chylomicronemia syndrome
Findings support reclassification of the novel apolipoprotein A5 (ApoA5) variant as likely pathogenic and enable differentiation from multifactorial chylomicronemia syndrome.
J. Gutiérrez, P. Castaño, Claudia Monsalve et al.
· Archives of Endocrinology an... · 0 citations