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

Strom, TB; Asprusten, E; Laerdahl, JK; Oygard, I; Hussain, MM; Bogsrud, MP; Leren, TP

Strom, TB (通讯作者)，Oslo Univ Hosp, Dept Med Genet, Unit Cardiac & Cardiovasc Genet, POB 4956, NO-0424 Oslo, Norway.

JOURNAL OF CLINICAL LIPIDOLOGY, 2023; 17 (6): 800

Abstract

Background: Molecular genetic testing of patients with hypobetalipoproteinemia may identify a genetic cause that can form the basis for starting prope......

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