Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.

Abstract excerpt

PURPOSE OF REVIEW: We review current knowledge regarding naturally occurring mutations in the human apolipoprotein A-I (APOA1) gene with a focus on their clinical complications as well as their exploitation for the elucidation of structure-function-(disease) relationships and therapy. RECENT FINDINGS: Bi-allelic loss-of-function mutations in APOA1 cause HDL deficiency and, in the majority of patients, premature...

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