Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2021.04.013
Abstract: "Normotriglyceridemic abetalipoproteinemia (ABL)" was originally described as a clinical entity distinct from either ABL or hypobetalipoproteinemia. Subsequent studies identified mutations in APOB gene which encoded truncated apoB longer than apoB48. Therefore, "Normotriglyceridemic ABL" can be… read more here.
Keywords: plasma apob48; apob48 despite; despite virtual; normal plasma ... See more keywords