Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.
نویسندگان
چکیده
منابع مشابه
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.
Familial hypercholesterolemia and familial ligand-defective apolipoprotein B-100 (FDB) are dominantly inherited disorders leading to impaired low-density lipoprotein receptor (LDLR) and apolipoprotein B-100 (APOB) interaction, plasma LDL elevation, and hypercholesterolemia. We previously identified the first French FDB-R3531C proband, a woman with very high total cholesterol, in a group of type...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1988
ISSN: 0021-9738
DOI: 10.1172/jci113795