1.5 Mutational spectrum: Over 30 variants in MTTP associated with abetaliopoproteinaemia have been described, mostly missense, nonsense and splicing variants located throughout the gene's 18 exons.

Abetalipoproteinaemia is clinically characterised by the absence of apolipoprotein (apo) B-containing lipoproteins together with systemic clinical manifestations. All reported patients have fat ...