TY  - GEN
AU  - Soutar,A K
AU  - Knight,B L
AU  - Patel,D D
TI  - Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors
SN  - 0027-8424
PY  - 1989///0712
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Female
KW  - Gene Amplification
KW  - Genes
KW  - Homozygote
KW  - Humans
KW  - Hyperlipoproteinemia Type II
KW  - genetics
KW  - Ligands
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Receptors, LDL
KW  - Reference Values
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1073/pnas.86.11.4166
ER  -