KEGG   VARIANT: 338v1Help
Entry
338v1                      Variant                                 

Name
APOB mutation
Gene
APOB  apolipoprotein B [KO:K14462]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107730
Network
nt06320  APOB-LDLR signaling
  Element
N00333  Mutation-caused aberrant APOB to vesicular uptake of lipoproteins
Reference
  Authors
De Castro-Oros I, Pocovi M, Civeira F
  Title
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.
  Journal
Appl Clin Genet 3:53-64 (2010)
DOI:10.2147/TACG.S8285
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