Article
Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH.
Arteriosclerosis, thrombosis, and vascular biology - 1 Feb 1995
Sun X M, Patel D D, Bhatnagar D, Knight B L, Soutar A K
Abstract excerpt
We have identified a substitution of G to A in the first base pair of intron 3 in the LDL receptor gene of an English heterozygous familial hypercholesterolemia (FH) patient. Reverse transcription, amplification, and nucleotide sequencing of the LDL receptor mRNA from mononuclear blood cells show...
Topics
- Adult
- Alleles
- Base Sequence
- Child, Preschool
- DNA, Complementary
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Leukocytes, Mononuclear
- Male
- Middle Aged
- Molecular Sequence Data
- Pedigree
- Point Mutation
- RNA Splicing
- RNA, Messenger
- Receptors, LDL