Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine

•Homozygosity for mutation Q384K in the APOB gene causes hypobetalipoproteinemia.•Mutation Q384K disrupts the structure of the large lipid transfer (LLT) module of apoB.•Secretion of apoB-100 from the liver was markedly reduced.•Secretion of apoB-48 from the intestine was normal.•Abnormal structure...

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