TY  - GEN
AU  - De Castro-Orós,Isabel
AU  - Pampín,Sandra
AU  - Bolado-Carrancio,Alfonso
AU  - De Cubas,Aguirre
AU  - Palacios,Lourdes
AU  - Plana,Nuria
AU  - Puzo,Jose
AU  - Martorell,Esperanza
AU  - Stef,Marianne
AU  - Masana,Luis
AU  - Civeira,Fernando
AU  - Rodríguez-Rey,Jose Carlos
AU  - Pocoví,Miguel
TI  - Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia
SN  - 1098-1004
PY  - 2011///1209
KW  - 5' Untranslated Regions
KW  - genetics
KW  - Base Sequence
KW  - Cell Line, Tumor
KW  - Consensus Sequence
KW  - Electrophoretic Mobility Shift Assay
KW  - Hep G2 Cells
KW  - Humans
KW  - Hyperlipoproteinemia Type II
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Promoter Regions, Genetic
KW  - Receptors, LDL
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.21520
ER  -