The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels.
Centre for Cardiovascular Genetics, The Rayne Institute, University College Hospital Medical School, University College London, 5 University Street, London WC1E 6JJ, UK.
R A
RA
Whittall
S
S
Matheus
T
T
Cranston
G J
GJ
Miller
S E
SE
Humphries
D002784:Cholesterol / Q000097:blood*; D004252:DNA Mutational Analysis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D007438:Introns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL; D002784:Cholesterol