The Singapore Human Mutation
And Polymorphism Database

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<< Gene or Locus List >>

LDLR
OMIM: *606945
Gene Name: low density lipoprotein receptor (familial hypercholesterolemia)

encodes low density lipoprotein (LDL) receptor; removal of LDL by endocytosis of receptor-ligand complex

1 mutation/polymorphism recorded....
[1] 1108A>G in exon 8 : Paper 1



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