VARIANT: 3949v1
Help
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
PMID:
23375686
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
LinkDB
All DBs
DBGET
integrated database retrieval system