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).

Sun, X M

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). [electronic resource] - Human molecular genetics Nov 1995 - 2125-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0964-6906

10.1093/hmg/4.11.2125 doi


Animals
Base Sequence
Binding Sites
Cell Line
DNA
Female
Heterozygote
Humans
Hyperlipoproteinemia Type II--genetics
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Promoter Regions, Genetic
RNA, Messenger--metabolism
Receptors, LDL--genetics
Sp1 Transcription Factor--metabolism
Transfection