TY  - GEN
AU  - Sun,X M
AU  - Neuwirth,C
AU  - Wade,D P
AU  - Knight,B L
AU  - Soutar,A K
TI  - A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)
SN  - 0964-6906
PY  - 1996///0327
KW  - Animals
KW  - Base Sequence
KW  - Binding Sites
KW  - Cell Line
KW  - DNA
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Hyperlipoproteinemia Type II
KW  - genetics
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Promoter Regions, Genetic
KW  - RNA, Messenger
KW  - metabolism
KW  - Receptors, LDL
KW  - Sp1 Transcription Factor
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/4.11.2125
ER  -