An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
Research output: Contribution to journal › Journal article › Research › peer-review
No abstract.
Original language | English |
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Journal | Human Mutation |
Volume | 7 |
Issue number | 1 |
Pages (from-to) | 82-4 |
Number of pages | 2 |
ISSN | 1059-7794 |
DOIs | |
Publication status | Published - 1996 |
Externally published | Yes |
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