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

L G Jensen; H K Jensen; H Nissen; K Kristiansen; O Faergeman; L Bolund; N Gregersen

doi:10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

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

L G Jensen, H K Jensen, H Nissen, K Kristiansen, O Faergeman, L Bolund, N Gregersen

Research output: Contribution to journal › Journal article › Research › peer-review

13 Citations (Scopus)

Abstract

No abstract.

Original language	English
Journal	Human Mutation
Volume	7
Issue number	1
Pages (from-to)	82-4
Number of pages	2
ISSN	1059-7794
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O
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

Access to Document

10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

Cite this

@article{b85ad1f00f9f11de8478000ea68e967b,

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

abstract = "No abstract.",

author = "Jensen, {L G} and Jensen, {H K} and H Nissen and K Kristiansen and O Faergeman and L Bolund and N Gregersen",

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",

year = "1996",

doi = "10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O",

language = "English",

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pages = "82--4",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "JohnWiley & Sons, Inc.",

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TY - JOUR

T1 - An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

AU - Jensen, L G

AU - Jensen, H K

AU - Nissen, H

AU - Kristiansen, K

AU - Faergeman, O

AU - Bolund, L

AU - Gregersen, N

N1 - 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

PY - 1996

Y1 - 1996

N2 - No abstract.

AB - No abstract.

U2 - 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

DO - 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

M3 - Journal article

C2 - 8664911

VL - 7

SP - 82

EP - 84

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -