An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

Research output: Contribution to journalJournal articleResearchpeer-review

No abstract.
Original languageEnglish
JournalHuman Mutation
Issue number1
Pages (from-to)82-4
Number of pages2
Publication statusPublished - 1996
Externally publishedYes

Bibliographical note

Keywords: Alleles; Base Sequence; Heterozygote Detection; Humans; Hyperlipoproteinemia Type II; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Promoter Regions, Genetic; RNA, Messenger; Receptors, LDL; Transcription, Genetic

ID: 11253625