KEGG   VARIANT: 3949v1Help
Entry
3949v1                      Variant                                

Name
LDLR mutation
Gene
LDLR  low density lipoprotein receptor [KO:K12473]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606945
Network
nt06320  APOB-LDLR signaling
  Element
N00334  Mutation-inactivated LDLR to vesicular uptake of lipoproteins
Reference
  Authors
Bertolini S, Pisciotta L, Rabacchi C, Cefalu AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S
  Title
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
  Journal
Atherosclerosis 227:342-8 (2013)
DOI:10.1016/j.atherosclerosis.2013.01.007
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