KEGG   NETWORK: N00334Help
Entry
N00334                      Network                                

Name
Mutation-inactivated LDLR to vesicular uptake of lipoproteins
Definition
APOB // LDLR*
  Expanded
338 // 3949v1
Class
nt06320 APOB-LDLR signaling
Type
Variant
Pathway
hsa04979  Cholesterol metabolism
Disease
H01635  Hyperlipidemia
H00155  Familial hypercholesterolemia
Gene
338  APOB; apolipoprotein B
3949  LDLR; low density lipoprotein receptor
Variant
3949v1  LDLR mutation
Reference
  Authors
Di Taranto MD, D'Agostino MN, Fortunato G
  Title
Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis.
  Journal
Nutr Metab Cardiovasc Dis 25:979-87 (2015)
DOI:10.1016/j.numecd.2015.06.007
Reference
  Authors
Sharifi M, Futema M, Nair D, Humphries SE
  Title
Genetic Architecture of Familial Hypercholesterolaemia.
  Journal
Curr Cardiol Rep 19:44 (2017)
DOI:10.1007/s11886-017-0848-8
Reference
  Authors
Fahed AC, Nemer GM
  Title
Familial hypercholesterolemia: the lipids or the genes?
  Journal
Nutr Metab (Lond) 8:23 (2011)
DOI:10.1186/1743-7075-8-23
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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