Donor splice-site mutation (210+1G_C) in the ApoB gene causes a very low level of ApoB-100 and LDL cholesterol.

Authors :: Welty FK
Guida KA
Andersen JJ
Source :: Arteriosclerosis, thrombosis, and vascular biology [Arterioscler Thromb Vasc Biol] 2001 Nov; Vol. 21 (11), pp. 1864-5.
Publication Year :: 2001

Subjects :: Adult
Apolipoprotein B-100
Child
Female
Humans
Hypobetalipoproteinemias diagnosis
Hypobetalipoproteinemias metabolism
Infant
Male
Middle Aged
Apolipoproteins B genetics
Apolipoproteins B metabolism
Cholesterol, LDL metabolism
Hypobetalipoproteinemias genetics
Mutation
RNA Splice Sites

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