KEGG   VARIANT: 26119v1
Entry
26119v1                      Variant                               

Name
LDLRAP1 mutation
Gene
LDLRAP1  low density lipoprotein receptor adaptor protein 1 [KO:K12474]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605747
Network
nt06320  APOB-LDLR signaling
  Element
N00335  Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins
Reference
  Authors
Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH
  Title
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
  Journal
Science 292:1394-8 (2001)
DOI:10.1126/science.1060458
LinkDB

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