Donor splice-site mutation (210+1G_C) in the ApoB gene causes a very low level of ApoB-100 and LDL cholesterol.
Welty
F K
FK
Guida
K A
KA
Andersen
J J
JJ
D000328:Adult; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics* / Q000378:metabolism*; D002648:Child; D008078:Cholesterol, LDL / Q000378:metabolism*; D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D022821:RNA Splice Sites
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D022821:RNA Splice Sites